The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA10014178 258184
VCEP: Myeloid Malignancy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001754.4(RUNX1):c.1389C>G (p.Pro463=) | Benign | hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome | 2019-08-02 | 1.0 | - | RUNX1 |
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