ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.*44C>G

gnomAD frequency: 0.00869  dbSNP: rs535532916
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV002264676 SCV002546415 benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-06-30 reviewed by expert panel curation NM_001754.5(RUNX1):c.*44C>G is a 3' UTR variant. MAF of 0.01 (1.31%, 885/67420 alleles) in the European (non-Finnish) subpopulation of the gnomAD v3.1.2 cohort is ≥ 0.0015 (0.15%) (BA1). This variant is reported in 4 homozygotes in gnomAD v3.1.2 (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
PreventionGenetics, part of Exact Sciences RCV000253157 SCV000308027 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307870 SCV000435939 benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000680376 SCV001793609 likely benign not provided 2018-07-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000680376 SCV005206245 likely benign not provided criteria provided, single submitter not provided

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