ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.189C>A (p.Ala63=)

dbSNP: rs2058003198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV004774512 SCV005382805 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-10-29 reviewed by expert panel curation NM_001754.5(RUNX1):c.189C>A (p.Ala63=) is a synonymous variant which has a SpliceAI score ≤ 0.20 (0.02) (BP4). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_Supporting). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM2_supporting, BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV001901014 SCV002158767 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-02-17 criteria provided, single submitter clinical testing

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