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: CA343776041 694627
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.624+1G>A | Likely Pathogenic | antithrombin III deficiency | 2024-01-25 | 1.0 | - | SERPINC1 |
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