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"https://erepo.genome.network/evrepo/api/interpretation/CA024278/MONDO:0100150/179/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA024278/MONDO:0100150/179/ci/CA024278/MONDO:0100150/179.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "comments": "The highest minor allele frequency in gnomAD v4.1.0 is 0.00001102 (13/1180036 alleles) in non-Finnish European which meets no population codes.", "contributionDate": { "date": "2026/7/20", "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": "CA024278/MONDO:0100150/179/ci/CA024278/MONDO:0100150/179.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA024278/MONDO:0100150/179/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA024278/MONDO:0100150/179/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA024278/MONDO:0100150/179/0/1804", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA024278/MONDO:0100150/179", "metadata": { "created": "2026-07-20T15:03:54.889Z", "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, 20 Jul 2026 15:03:54 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "f5a7c288-042b-4beb-800e-ac3fce420d14", "variant": { "@id": "https://reg.genome.network/allele/CA024278", "id": "CAR:CA024278", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000540.3:c.14928C>G" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-03T09:16:01.823Z" } }, "status": { "code": 200, "name": "OK" } }