{ "data": { "@context": "https://genboree.org/evrepo/api/context", "@id": "https://genboree.org/evrepo/api/summary/classification/632dba69-eba4-43bd-aeb8-8e6a23dab49b/doc/sepio/version/1.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535304680", "label": "ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYBPC3 Version 1.0.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "1.0.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0005045", "id": "MONDO:0005045", "label": "hypertrophic cardiomyopathy", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1837", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/ei/1/1838", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1837/1839", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1837/1839", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/1/1838", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1837", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1747", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/ei/1/1748", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "comments": "Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein.", "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1747", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1684", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/ei/1/1685", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "comments": "Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein.", "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1684", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1777", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/ei/1/1778", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1777", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1765", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/ei/1/1766", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1765/1767", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1765/1767", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/1/1766", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1765", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1828", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/ei/1/1829", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1828/1830", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "comments": "no functional studies", "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1828", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1699", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/ei/1/1700", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1699/1701", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "comments": "Walsh (OGML+ LMM) : 14/6179 cases, gnomad 2.1 (NFE) : 5/112974 alleles \nOR calculations: 14 in 6179 case genotypes vs 5 in 56487 control genotypes gives an odds ratio of 25.65 (95%CI=9.24-71.24)\n\nLower bound CI:\nStrong 95%CI=9.24 (threshold for strong ≥20)\nModerate 95%CI=9.24 (threshold for moderate ≥10)\nSupporting 95%CI=9.24 (threshold for supporting ≥5)\n\nThe lower bound 95%CI is greater than 5 (95%CI=9.24). Therefore PS4 is set to PS4_Supporting. Given that this is just shy of 10, and gnomad 4.1.0 will get this to Moderate, will upgrade to PS4_moderate (this was what was denoted in the pilot variant excel sheet summary as well)", "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1699/1701", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/1/1700", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1699", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1648", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/ei/1/1649", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1648/1650", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "comments": "see below", "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1648/1650", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/1/1649", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1648", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1804", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/ei/1/1805", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1804", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1588", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/ei/1/1589", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1588/1590", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "comments": "no functional studies", "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1588", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1615", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/ei/1/1616", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1615/1617", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "comments": "This variant lies in a region of the protein where variants are statistically more likely to be disease-associated (PM1_Strength; Walsh 2019 PMID: 30696458). ", "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1615/1617", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/1/1616", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1615", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1798", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/ei/1/1799", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA010464/MONDO:0005045/095/el/0/1798/1800", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50002_EP155362646680095", "id": "CG-PCER-AGENT:CG_50002_EP155362646680095", "type": "Agent" }, "comments": "Variant is present in gnomAD v2.1.1 but does not meet threshold for PM2_Supporting.", "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA010464/MONDO:0005045/095/ci/CA010464/MONDO:0005045/095.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1798/1800", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/1/1799", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095/0/1798", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA010464/MONDO:0005045/095", "metadata": { "created": "2026-03-20T19:24:16.779Z", "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.", "producedAtUTC": "Fri, 20 Mar 2026 19:24:16 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "632dba69-eba4-43bd-aeb8-8e6a23dab49b", "variant": { "@id": "https://reg.genome.network/allele/CA010464", "id": "CAR:CA010464", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000256.3:c.1484G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://genboree.org/evrepo/api/summarysrvc", "when": "2026-06-13T10:56:45.167Z" } }, "status": { "code": 200, "name": "OK" } }