ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.*730dup

dbSNP: rs11424730
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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 RCV002264685 SCV002546397 benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-06-30 reviewed by expert panel curation This 3' UTR variant has a MAF of 0.028 (2.8%, 243/8618 alleles) in the African/African-American subpopulation of the gnomAD v2.1.1 cohort is ≥ 0.0015 (0.15%) (BA1). This variant is reported in 3 homozygotes 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.
Illumina Laboratory Services, Illumina RCV000361165 SCV000435920 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2016-06-14 criteria provided, single submitter clinical testing

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