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All of those individuals, were compound heterozygous for the variant and a pathogenic variant as confirmed by parental testing", "contributionDate": { "date": "2026/6/25", "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": "CA132231/MONDO:0019501/005/ci/CA132231/MONDO:0019501/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA132231/MONDO:0019501/005/0/1669/1671", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA132231/MONDO:0019501/005/1/1670", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA132231/MONDO:0019501/005/0/1669", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA132231/MONDO:0019501/005", "metadata": { "created": "2026-06-25T19:14:36.572Z", "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": "Thu, 25 Jun 2026 19:14:36 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "6a32887c-1612-4a2f-a69d-9c23b9789b97", "variant": { "@id": "https://reg.genome.network/allele/CA132231", "id": "CAR:CA132231", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000260.4:c.2002C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-15T09:24:37.637Z" } }, "status": { "code": 200, "name": "OK" } }