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Reported along with R445* (Phase unknown) which is classified as pathogenic by the VCEP, in 1 patient [P073] with T-B+ SCID [0.5 pt]. NK cell data not available (PMID: 28747913). Reported in compound heterozygous status with c.421-6C>T which is a VUS, in 1 patient [P55] with SCID (PMID: 30778343) [0.25pt]. Reported in compound heterozygous status with p.Arg117His which is a VUS, in a Patient with T-B+NkLow SCID [0.25pt]. Total 2pts", "contributionDate": { "date": "2026/10/27", "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": "CA9302208/MONDO:0010938/121/ci/CA9302208/MONDO:0010938/121.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA9302208/MONDO:0010938/121/0/1651/1653", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA9302208/MONDO:0010938/121/1/1652", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA9302208/MONDO:0010938/121/0/1651", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9302208/MONDO:0010938/121/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9302208/MONDO:0010938/121/ei/1/1805", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/10/27", "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/0070", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "0070", "label": "BS1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9302208/MONDO:0010938/121/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA9302208/MONDO:0010938/121/ci/CA9302208/MONDO:0010938/121.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/10/27", "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": "CA9302208/MONDO:0010938/121/ci/CA9302208/MONDO:0010938/121.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA9302208/MONDO:0010938/121/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA9302208/MONDO:0010938/121/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA9302208/MONDO:0010938/121/0/1804", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA9302208/MONDO:0010938/121", "metadata": { "created": "2026-10-27T20:03:42.564Z", "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": "Tue, 27 Oct 2026 20:03:42 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "c85a8c1d-d6af-48a6-a182-a644bdc1ba6c", "variant": { "@id": "https://reg.genome.network/allele/CA9302208", "id": "CAR:CA9302208", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000215.4:c.307C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000215.4(JAK3):c.307C>T (p.Arg103Cys)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-05T16:25:49.983Z" } }, "status": { "code": 200, "name": "OK" } }