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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr) | Likely Pathogenic | antithrombin III deficiency | 2024-12-20 | 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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