The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA210754 18010
VCEP: Thrombosis VCEP
Showing 1 to 2 of 2 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu) | Pathogenic | antithrombin III deficiency | 2024-09-30 | 1.1 | - | SERPINC1 |
| View | NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu) | Pathogenic | antithrombin III deficiency | 2024-08-21 | 1.0 | - | SERPINC1 |
Showing 1 to 2 of 2 rows