ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.352-292T>C

gnomAD frequency: 0.01560  dbSNP: rs111271072
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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 RCV004595620 SCV005088383 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-06-24 reviewed by expert panel curation MAF of 0.00001617(0.001617%, 11/68046 alleles) in the NFE subpopulation of the gnomAD 3.1.2 cohort is between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1). This variant is detected in a homozygous state in an individual or in a population database 64 times (gnomAD 3.1.2) (BP2). This synonymous/intronic/UTR/frameshift variant has a SpliceAI score ≤ 0.20 (Donor Loss 0.01) (BP4). Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score -0.01 < 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 likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BS1, BP2, BP4, BP7
GeneDx RCV001595329 SCV001828672 benign not provided 2019-03-20 criteria provided, single submitter clinical testing

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