ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.58+264C>T

gnomAD frequency: 0.07034  dbSNP: rs9981811
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV004699439 SCV005205698 benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-09-10 reviewed by expert panel curation NM_001754.5(RUNX1):c.58+264C>T is an intronic variant with a MAF of 0.08337(8.337%, 1286/15426,) in the European subpopulation of gnomAD cohort is ≥ 0.0015 (0.15%) (BA1). This variant is observed in 70 homozygotes in a population database (gnomAD) (BP2). This variant has a SpliceAI score ≤ 0.20 (Donor Loss 0.05) (BP4). Evolutionary conservation algorithms predict the site as not being conserved (PhyloP score -1.17 < 2.0 or the variant is the reference nucleotide in one primate (Rhesus) (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: BA1, BP2, BP4, BP7.
GeneDx RCV001652739 SCV001865913 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001652739 SCV005310057 benign not provided criteria provided, single submitter not provided

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