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: CA123254 13568
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(ITGB3):c.836A>T (p.Lys279Met) | Uncertain Significance | Glanzmann thrombasthenia | 2024-10-16 | 1.1 | ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1 | ITGB3 |
| View | NM_000212.2(ITGB3):c.836A>T (p.Lys279Met) | Uncertain Significance | Glanzmann thrombasthenia | 2021-08-19 | 1.0 | - | ITGB3 |
Showing 1 to 2 of 2 rows