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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000173.7(GP1BA):c.482C>T (p.Thr161Met)
Benign
Bernard-Soulier syndrome2025-02-12
1.0
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP1BA Version 1.0.0GP1BA
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