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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) | Likely Pathogenic | Glanzmann thrombasthenia | 2024-05-03 | 2.0 | ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1 | ITGA2B |
| View | NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) | Likely Pathogenic | Glanzmann's thrombasthenia | 2021-08-20 | 1.0 | - | ITGA2B |
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