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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000419.5(ITGA2B):c.2188-7C>G | Benign | Glanzmann thrombasthenia | 2023-09-21 | 1.0 | ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1 | ITGA2B |
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