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: CA1251403 529744
VCEP: Thrombosis VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000488.4(SERPINC1):c.529C>T (p.Arg177Cys) | Uncertain Significance | antithrombin III deficiency | 2024-06-25 | 2.0 | ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0 | SERPINC1 |
View | NM_000488.4(SERPINC1):c.529C>T (p.Arg177Cys) | Likely Benign | antithrombin III deficiency | 2024-01-25 | 1.0 | ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0 | SERPINC1 |
Showing 1 to 2 of 2 rows