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: CA8459619 468551
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_001369369.1(FOXN1):c.1757G>A (p.Cys586Tyr) | Likely Benign | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 2024-07-29 | 1.0 | ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXN1 Version 1.0.0 | FOXN1 |
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