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Other genetic ancestry groups (East Asian and South Asian) have higher allele frequencies but do not meet the ClinGen Epilepsy Sodium Channel threshold of ≥5 alleles to meet this criterion (BS1).", "contributionDate": { "date": "2024/12/19", "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": "CA10612411/MONDO:0100038/068/ci/CA10612411/MONDO:0100038/068.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10612411/MONDO:0100038/068/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10612411/MONDO:0100038/068/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10612411/MONDO:0100038/068/0/1804", "type": "EvidenceLine" }, { "@id": 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"metadata": { "created": "2024-12-20T22:56:32.186Z", "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 Dec 2024 22:56:32 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26334-5", "id": "LN:LA26334-5", "label": "Likely Benign" }, "type": "VariantPathogenicityInterpretation", "uuid": "8266754d-3fb0-4c99-9635-ead230befadc", "variant": { "@id": "https://reg.genome.network/allele/CA10612411", "id": "CAR:CA10612411", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_001040142.2:c.3043G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-06-13T12:06:22.432Z" } }, "status": { "code": 200, "name": "OK" } }