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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000174.5(GP9):c.-124C>T | Benign | Bernard-Soulier syndrome | 2025-02-14 | 1.0 | ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP9 Version 1.0.0 | GP9 |
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