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: CA10014215 258182
VCEP: Myeloid Malignancy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001754.5(RUNX1):c.1044C>T (p.His348=) | Uncertain Significance | hereditary thrombocytopenia and hematologic cancer predisposition syndrome | 2025-01-15 | 1.1 | - | RUNX1 |
| View | NM_001754.5(RUNX1):c.1044C>T (p.His348=) | Uncertain Significance | hereditary thrombocytopenia and hematologic cancer predisposition syndrome | 2022-07-05 | 1.0 | - | RUNX1 |
Showing 1 to 2 of 2 rows