ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.-19G>A

dbSNP: rs1568815605
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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 RCV003411590 SCV004123180 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2023-11-13 reviewed by expert panel curation NM_001754.5(RUNX1):c.-19G>A is an intronic variant. This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting). REVEl score not applicable and SpliceAI is <=0.20 (0.02) (BP4). Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score 0.31 < 2.0) (BP7).In summary, the clinical significance of this variant is Likely Benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4, BP7, PM2
PreventionGenetics, part of Exact Sciences RCV000680377 SCV000807748 likely benign not provided 2016-12-17 criteria provided, single submitter clinical testing

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