Showing 1 to 2 of 2 rows
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 thrombasthenia | 2024-06-07 | 2.0 | ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1 | ITGB3 |
View | NM_000212.2(ITGB3):c.1199G>A (p.Cys400Tyr) | Likely Pathogenic | Glanzmann thrombasthenia | 2021-12-23 | 1.0 | - | ITGB3 |
Showing 1 to 2 of 2 rows