{
  "data": {
    "@context": "https://genboree.org/evrepo/api/context",
    "@id": "https://genboree.org/evrepo/api/summary/classification/3d606fc6-e2fd-4a23-8c42-ff8d668a7f9e/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1527855755",
      "label": "ClinGen VHL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VHL Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0008667",
      "id": "MONDO:0008667",
      "label": "von Hippel-Lindau disease",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://genboree.org/evrepo/api/interpretation/CA020046/MONDO:0008667/078/el/0/1777",
        "evidenceItem": [
          {
            "@id": "https://genboree.org/evrepo/api/interpretation/CA020046/MONDO:0008667/078/ei/1/1778",
            "contribution": [
              {
                "agent": {
                  "@id": "https://genboree.org/evrepo/api//agent/CG_50036_EP171933178587891",
                  "id": "CG-PCER-AGENT:CG_50036_EP171933178587891",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/7/17",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0087",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000325",
                "id": "SEPIO:0000325",
                "label": "Benign Stand Alone"
              },
              "id": "0087",
              "label": "BA1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://genboree.org/evrepo/api/interpretation/CA020046/MONDO:0008667/078/el/0/1777/1779",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA020046/MONDO:0008667/078/ci/CA020046/MONDO:0008667/078.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://genboree.org/evrepo/api//agent/CG_50036_EP171933178587891",
                          "id": "CG-PCER-AGENT:CG_50036_EP171933178587891",
                          "type": "Agent"
                        },
                        "comments": "The GroupMax Filtering Allele Frequency (95% CI) in gnomAD v4.1.0 is 0.0006831 (71/ 84504 from South Asian Population). This is higher than the ClinGen VHL VCEP threshold of >=0.000156 (0.0156%) threshold expected for VHL disease (BA1). ",
                        "contributionDate": {
                          "date": "2024/7/17",
                          "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": "CA020046/MONDO:0008667/078/ci/CA020046/MONDO:0008667/078.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA020046/MONDO:0008667/078/0/1777/1779",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA020046/MONDO:0008667/078/1/1778",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA020046/MONDO:0008667/078/0/1777",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA020046/MONDO:0008667/078",
    "metadata": {
      "created": "2024-09-23T22:36:33.443Z",
      "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": "Mon, 23 Sep 2024 22:36:33 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6675-8",
      "id": "LN:LA6675-8",
      "label": "Benign"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "3d606fc6-e2fd-4a23-8c42-ff8d668a7f9e",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA020046",
      "id": "CAR:CA020046",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000551.4:c.119C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000551.4(VHL):c.119C>T (p.Pro40Leu)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://genboree.org/evrepo/api/summarysrvc",
      "when": "2026-06-14T02:38:19.472Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}