{ "data": { "@context": "https://genboree.org/evrepo/api/context", "@id": "https://genboree.org/evrepo/api/summary/classification/b488cc54-438b-48e8-bda5-58bd35568af1/doc/sepio/version/1.11.1", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1529230095", "label": "ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RMRP Version 1.0.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "1.0.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0009595", "id": "MONDO:0009595", "label": "cartilage-hair hypoplasia", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/el/0/1798", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/ei/1/1799", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "contributionDate": { "date": "2026/2/6", "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/CA587570153/MONDO:0009595/088/el/0/1798/1800", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "comments": "Cutoff set by VCEP is MAF <0.0000447. In gnomAD v4.1.0 neither the overall MAF 0.00007166 (49/683800 alleles) nor the highest subpopulation MAF (Admixed American) 0.0008724 (43/49292) meets this cutoff (OF NOTE: all reported CHH/AD patients in the literature are reported Hispanic or Spanish/Mexican). Therefore PM2 is not met. There are no homozygotes in gnomAD. https://gnomad.broadinstitute.org/variant/9-35657752-CAGCCGCGCTG-C?dataset=gnomad_r4\n", "contributionDate": { "date": "2026/2/6", "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": "CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1798/1800", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/1/1799", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1798", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/el/0/1831", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/ei/1/1832", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "contributionDate": { "date": "2026/2/6", "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/CA587570153/MONDO:0009595/088/el/0/1831/1833", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "comments": "3 patients, all Hispanic and/or Spanish/Mexican ancestry. All are unrelated. 1 proband in PMID: 17701897: metaphyseal dysplasia 1 point, meets PP4 regular strength. 2 probands in PMID: 16838329: P9 with metaphyseal dysplasia (1 point) + hypotrichosis (0.5 point) = 1.5 points, meets PP4 regular strength. P20 with metaphyseal dysplasia (1 point) + hypotrichosis (0.5 point) + Hirschsprung disease (0.25 point) + T lymphopenia (0.5 point) = 2.25 points, meets PP4 moderate strength.", "contributionDate": { "date": "2026/2/6", "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": "CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1831/1833", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/1/1832", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1831", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/el/0/1615", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/ei/1/1616", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "contributionDate": { "date": "2026/2/6", "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/CA587570153/MONDO:0009595/088/el/0/1615/1617", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "comments": "As per VCEP specifications, PM1 only applies to promoter variants. Our variant is not located in promoter region", "contributionDate": { "date": "2026/2/6", "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": "CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1615/1617", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/1/1616", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1615", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/el/0/1777", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/ei/1/1778", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "contributionDate": { "date": "2026/2/6", "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/CA587570153/MONDO:0009595/088/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "contributionDate": { "date": "2026/2/6", "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": "CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1777", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/el/0/1747", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/ei/1/1748", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "contributionDate": { "date": "2026/2/6", "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/CA587570153/MONDO:0009595/088/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "comments": "does not apply - per VCEP specifications PP3 can be applied only for single nucleotide polymorphisms. This variant is a 10bp deletion.", "contributionDate": { "date": "2026/2/6", "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": "CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1747", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/el/0/1702", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/ei/1/1703", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "contributionDate": { "date": "2026/2/6", "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/CA587570153/MONDO:0009595/088/el/0/1702/1704", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "comments": "There are no homozygotes in gnomAD", "contributionDate": { "date": "2026/2/6", "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": "CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1702/1704", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/1/1703", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1702", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/el/0/1804", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/ei/1/1805", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "contributionDate": { "date": "2026/2/6", "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/CA587570153/MONDO:0009595/088/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "comments": "Cutoff set by VCEP is MAF > 0.00089. In gnomAD v4.1.0, the overall MAF 0.00007166 (49/683800 alleles) is well below this. The highest subpopulation MAF (Admixed American) is 0.0008724 (43/49292) which is close to but does not exceed the cutoff (OF NOTE: all reported CHH/AD patients in the literature are reported Hispanic or Spanish/Mexican). Therefore BS1 is not met. There are no homozygotes in gnomAD. https://gnomad.broadinstitute.org/variant/9-35657752-CAGCCGCGCTG-C?dataset=gnomad_r4", "contributionDate": { "date": "2026/2/6", "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": "CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1804", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/el/0/1828", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/ei/1/1829", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "contributionDate": { "date": "2026/2/6", "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/CA587570153/MONDO:0009595/088/el/0/1828/1830", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "comments": "Functional assays allowed per VCEP specification include animal models, endonucleolytic cleavage activity assay, and luciferase reporter assay. Our variant was not tested by any of these assays. PMID: 17701897 does report this variant (referred to as g.254_263delCTCAGCGCGG) and state that sequencing of the RMRP RT-PCR product of patient with this variant showed absence of detectable levels of the mutation allele g.254_263delCTCAGCGCGG (whereas the co-occurring g.195C>T allele was present (data not shown)). Per authors this variant is likely to result in an unstable RNA and therefore represent null allele. Hence, the mutation g.254_263delCTCAGCGCGG was NOT analyzed in the functional assays. Nothing in VCEP specifications allows for using absence via RT-PCR as PS3 and PVS1 is n/a for this gene. So we have no functional assays that qualify for PS3.", "contributionDate": { "date": "2026/2/6", "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": "CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1828", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/el/0/1651", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA587570153/MONDO:0009595/088/ei/1/1652", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "contributionDate": { "date": "2026/2/6", "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/CA587570153/MONDO:0009595/088/el/0/1651/1653", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50091_EP170474609917003", "id": "CG-PCER-AGENT:CG_50091_EP170474609917003", "type": "Agent" }, "comments": "3 female probands in literature with co-occurring variants. All meet PP4. All are unrelated. 2 additional male probands from Invitae with co-occurring variants. PM3 is met at regular strength using literature probands only but we get to PM3_strong if we also include the Invitae probands. Point breakdown is as follows:\n\nPMID: 16838329 female proband: 1 co-occurrence with 116A>G (n.117A>G) (not classified by VCEP, likely VUS at this time since only 1 proband reported (PMID: 16838329) phase unknown. 0 points\nPMID: 16838329: female proband: 1 co-occurrence with 195C>T (NR_003051.3:n.196C>T, which is classified pathogenic by VCEP), phase unknown. 0.5 point\nPMID: 17701897: female proband: 1 co-occurrence with 195C>T (NR_003051.3:n.196C>T, which is classified pathogenic by VCEP), confirmed in trans via parental testing. 1 point.\nInvitae P1: male proband: 1 co-occurrence with n.196C>T (classified pathogenic by VCEP), confirmed in trans. 1 point.\nInvitae P2: male proband: 1 co-occurrence with n.117A>G (not classified by VCEP, probably VUS), confirmed in trans. Would be 0.25 point IF VCEP classified as VUS, but since not yet classified, 0 point awarded (adding 0.25 point at this time would not upgrade PM3 anyway)\n\nLiterature probands only: 1.5 points total = PM3 at regular strength\nLiterature + Invitae proband P1: 2.5 points total = PM3_strong\n", "contributionDate": { "date": "2026/2/6", "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": "CA587570153/MONDO:0009595/088/ci/CA587570153/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1651/1653", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/1/1652", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088/0/1651", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA587570153/MONDO:0009595/088", "metadata": { "created": "2026-03-24T17:10:11.122Z", "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": "Tue, 24 Mar 2026 17:10:11 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.11.1" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "b488cc54-438b-48e8-bda5-58bd35568af1", "variant": { "@id": "https://reg.genome.network/allele/CA587570153", "id": "CAR:CA587570153", "relatedContextualAllele": [ { "alleleName": [ { "name": "NR_003051.4:n.256_265delCTCAGCGCGG" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NR_003051.4(RMRP):n.256_265delCTCAGCGCGG" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://genboree.org/evrepo/api/summarysrvc", "when": "2026-05-09T16:19:29.255Z" } }, "status": { "code": 200, "name": "OK" } }