Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000419.5:c.1947-9T>C | Uncertain Significance | Glanzmann thrombasthenia | 2024-08-20 | 1.0 | ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1 | ITGA2B |
Showing 1 to 1 of 1 rows