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GDX2: child with non-extreme macrocephaly, dev delay, lipoma vs. AVM, hemangioma, peds score minimum = 6 = 1 PS4 point. GDX3: child with autism, inherited from father, no other information available. No weight added.", "contributionDate": { "date": "2025/12/17", "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": "CA000532/MONDO:0017623/003/ci/CA000532/MONDO:0017623/003.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA000532/MONDO:0017623/003/0/1699/1701", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA000532/MONDO:0017623/003/1/1700", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA000532/MONDO:0017623/003/0/1699", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA000532/MONDO:0017623/003", "metadata": { "created": "2025-12-17T19:33:11.826Z", "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": "Wed, 17 Dec 2025 19:33:11 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "633ec420-0afb-4647-b05d-ed0a118f2469", "variant": { "@id": "https://reg.genome.network/allele/CA000532", "id": "CAR:CA000532", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000314.8:c.599T>C" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000314.8(PTEN):c.599T>C (p.Phe200Ser)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-14T17:23:37.935Z" } }, "status": { "code": 200, "name": "OK" } }