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: CA123246 13564
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.2248C>T (p.Arg750Ter) | Pathogenic | Glanzmann thrombasthenia | 2021-12-23 | 2.0 | - | ITGB3 |
| View | NM_000212.2(ITGB3):c.2248C>T (p.Arg750Ter) | Pathogenic | Glanzmann's thrombasthenia | 2021-08-20 | 1.0 | - | ITGB3 |
Showing 1 to 2 of 2 rows