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: CA123249 13565
VCEP: Platelet Disorders VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000212.2(ITGB3):c.1924G>T (p.Glu642Ter) | Pathogenic | Glanzmann thrombasthenia | 2021-12-23 | 1.0 | - | ITGB3 |
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