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: CA208646 212088
VCEP: Myeloid Malignancy VCEP
Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001754.4(RUNX1):c.183G>A (p.Pro61=) | Benign | hereditary thrombocytopenia and hematologic cancer predisposition syndrome | 2021-01-12 | 1.0 | - | RUNX1 |
Showing 1 to 1 of 1 rows