ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.59-10G>T

gnomAD frequency: 0.00002  dbSNP: rs1569090482
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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 RCV004595546 SCV005088265 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-07-11 reviewed by expert panel curation NM_001754.5(RUNX1):c.59-10G>T is an intronic variant which has a SpliceAI score ≤ 0.20 (0.11) (BP4). Evolutionary conservation algorithms predict the site as not being conserved (PhyloP score -1.023 < 2.0) or the variant is the reference nucleotide in one primate (BP7). This variant has not been reported in an individual meeting at least one of the RUNX1-phenotypic criteria. In summary, this variant meets the criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP7, BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV000905664 SCV001050256 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-03-27 criteria provided, single submitter clinical testing

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