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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000212.2(ITGB3):c.1199G>A (p.Cys400Tyr)
Pathogenic
Glanzmann thrombasthenia2024-06-07
2.0
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1ITGB3
View NM_000212.2(ITGB3):c.1199G>A (p.Cys400Tyr)
Likely Pathogenic
Glanzmann thrombasthenia2021-12-23
1.0
-ITGB3
Showing 1 to 2 of 2 rows