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: CA400021939 627066
VCEP: Platelet Disorders VCEP
Showing 1 to 2 of 2 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000212.2:c.433G>A | Likely Pathogenic | Glanzmann thrombasthenia | 2023-11-03 | 2.0 | ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1 | ITGB3 |
View | NM_000212.2:c.433G>A | Likely Pathogenic | Glanzmann's thrombasthenia | 2021-01-28 | 1.0 | - | ITGB3 |
Showing 1 to 2 of 2 rows