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: CA9871628 2147602
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_000022.4(ADA):c.569G>A (p.Gly190Glu) | Uncertain Significance | adenosine deaminase deficiency | 2024-05-01 | 1.0 | ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ADA Version 1.0.0 | ADA |
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