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: CA122854 13130
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_000536.4(RAG2):c.686G>A (p.Arg229Gln) | Pathogenic | recombinase activating gene 2 deficiency | 2024-01-17 | 1.0 | ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG2 Version 1.0.0 | RAG2 |
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