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: CA248627 14470
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.442_449del (p.Thr148fs) | Pathogenic | hereditary thrombocytopenia and hematologic cancer predisposition syndrome | 2024-03-26 | 1.1 | ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | RUNX1 |
| View | NM_001754.4(RUNX1):c.442_449delACCGCAGC (p.Thr148Hisfs) | Pathogenic | hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome | 2019-08-02 | 1.0 | - | RUNX1 |
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