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: CA210762 18016
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.1273C>T (p.Arg425Cys) | Pathogenic | antithrombin III deficiency | 2024-08-21 | 1.0 | ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0 | SERPINC1 |
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