ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.508+182A>G

gnomAD frequency: 0.00473  dbSNP: rs76637156
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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 RCV005001230 SCV005627486 benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2025-01-15 reviewed by expert panel curation NM_001754.5(RUNX1):c.508+182A>G is an intronic variant which has not been featured in functional or case studies. Computational data has been used to evaluate this variant. The MAF of 0.01571 in the African subpopulation of the gnomAD v2 cohort allows for application of BA1; the observation of this variant in a homozygous state thrice in the same population allows for the application BP2. This variant has a SpliceAI score of 0, and a PhyloP score of -0.65, allowing for the application of both BP4 and 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 RCV001569364 SCV001793428 likely benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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