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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000132.3(F8):c.6046C>T (p.Arg2016Trp) | Pathogenic | hemophilia A | 2024-07-11 | 1.0 | ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F8 Version 1.0.0 | F8 |
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