ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.968-16C>T

gnomAD frequency: 0.00041  dbSNP: rs558410967
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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 RCV005001287 SCV005627290 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2025-01-15 reviewed by expert panel curation NM_001754.5(RUNX1):c.968-16C>T is an intronic variant with a MAF of 0.0007794 (0.07794%, 53/68004, 53 alleles) in the European (non-finnish) subpopulation of the gnomAD 3.1.2 cohort which is between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1). This intronic variant has a SpliceAI score ≤ 0.20 (0.0) (BP4). This variant has a SpliceAI score ≤ 0.20 (0.0) and evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score ≤ 2.0 (0.12) (BP7). 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, BP4, BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV002110002 SCV002431343 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-11-18 criteria provided, single submitter clinical testing

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