The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA290942825 627299
VCEP: Platelet Disorders VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000419.5(ITGA2B):c.3099A>T (p.Glu1033Asp) | Uncertain Significance | 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.3099A>T (p.Glu1033Asp) | Uncertain Significance | Glanzmann's thrombasthenia | 2021-01-23 | 1.0 | - | ITGA2B |
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