ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.-59-5C>T

gnomAD frequency: 0.00002  dbSNP: rs556553023
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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 RCV004700707 SCV005205597 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-09-10 reviewed by expert panel curation NM_001754.5(RUNX1):c.-59-5C>T is an intronic variant which has a SpliceAI score ≤ 0.20 (BP4). Evolutionary conservation algorithms predict the site as not being conserved (PhyloP score < 2.0 or the variant is the reference nucleotide in one primate and/or three mammal species) (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: BP4, BP7.
Sema4, Sema4 RCV002259239 SCV002535869 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-16 criteria provided, single submitter curation

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