The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA16608466 381747
VCEP: Platelet Disorders VCEP
Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000419.4(ITGA2B):c.2944G>A (p.Val982Met) | Pathogenic | Glanzmann's thrombasthenia | 2021-01-28 | 1.0 | - | ITGA2B |
Showing 1 to 1 of 1 rows