ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.352-184A>T

gnomAD frequency: 0.25699  dbSNP: rs2298354
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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 RCV004595625 SCV005088357 benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-06-24 reviewed by expert panel curation MAF of 0.30140 (30.1%, 2621/8696, 11,317 alleles) in the African subpopulation of the gnomAD v2 cohort is ≥ 0.0015 (0.15%) (BA1). REVEL score not applicable. SpliceAI predicts: Acceptor loss 0,00, acceptor gain 0.00, donor loss 0.00, donor gain 0.00 (BP4). Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score 0.550024 < 2.0 or the variant is the reference nucleotide in one primate and/or three mammal species) (BP7). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA2, BP4, BP7.
GeneDx RCV001644454 SCV001861377 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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