ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.968-8C>A

dbSNP: rs2145878691
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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 RCV005001245 SCV005627314 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2025-01-15 reviewed by expert panel curation NM_001754.5(RUNX1):c.968-8C>A is an intronic variant which is not predicted by SpliceAI to impact splicing (BP4). Additionally, evolutionary conservation algorithms predict the site is not highly conserved (PhyloP score = 0.744953 in GRCh38) (BP7). This variant is absent from gnomAD v2, v3, and v4, and it has not been reported in cases or the literature. In summary, this variant meets criteria to be classified as likely benign for hereditary thrombocytopenia and hematologic cancer predisposition syndrome. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy VCEP: BP4, BP7, and PM2_supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001893641 SCV002167889 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-08-24 criteria provided, single submitter clinical testing

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