The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA117001 4665
VCEP: Severe Combined Immunodeficiency Disease VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) | Pathogenic | severe combined immunodeficiency due to DCLRE1C deficiency | 2024-01-23 | 1.0 | ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DCLRE1C Version 1.0.0 | DCLRE1C |
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