ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.508+275T>G

gnomAD frequency: 0.01122  dbSNP: rs75181041
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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 RCV003405702 SCV004123226 benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2023-11-13 reviewed by expert panel curation NM_001754.5(RUNX1):c.508+275T>G is an intronic variant with no predicted splice effect. MAF of 0.03675 (3.675%, 320/8708 alleles) in the African/African American subpopulation of the gnomADv2.1.1 cohort is >= 0.0015 (0.15%) (BA1). Variant observed in homozygous state (2) in gnomAD v2.1.1 (BP2). 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: BA1, BP2
GeneDx RCV001534350 SCV001751273 likely benign not provided 2019-06-10 criteria provided, single submitter clinical testing

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