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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_001754.5(RUNX1):c.342C>A (p.Ile114=) | Benign | hereditary thrombocytopenia and hematologic cancer predisposition syndrome | 2024-09-10 | 1.0 | ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | RUNX1 |
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