ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.613+18G>C

gnomAD frequency: 0.00009  dbSNP: rs374732985
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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 RCV003408130 SCV004123173 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2023-11-13 reviewed by expert panel curation NM_001754.5(RUNX1):c.613+18G>C is an intronic variant. Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score 0.48 < 2.0 or the variant is the reference nucleotide in one primate and/or three mammal species) (BP7). Not a missense variant therefore REVEL score is not applicable and SpliceAI is <=0.50 (0.00) (BP4). 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: BP4 and BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV002124614 SCV002409557 benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-12-13 criteria provided, single submitter clinical testing

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