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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly) | Likely Pathogenic | Glanzmann thrombasthenia | 2023-04-07 | 1.0 | ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1 | ITGB3 |
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