ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.98-21T>C

gnomAD frequency: 0.00022  dbSNP: rs371813424
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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 RCV004719171 SCV005326434 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-09-18 reviewed by expert panel curation NM_001754.5(RUNX1):c.98-21T>C is an intronic variant. This variant has a MAF of 0.0002794 (0.028%, 19/67998, 19 alleles) in the European (non-Finnish) subpopulation of the gnomAD v3.1.2 cohort, which is between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1). This variant may impact splicing (Splice AI: Acceptor Loss Score = 0.35). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BS1.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238683 SCV002011267 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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