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: CA16616526 409812
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.530_532dup (p.Ile177dup) | Uncertain Significance | hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2024-09-25 | 1.0 | ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | RUNX1 |
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