ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.508+6T>C

dbSNP: rs2057883210
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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 RCV005001141 SCV005627293 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2025-01-15 reviewed by expert panel curation NM_001754.5(RUNX1):c.508+6T>C is an intronic variant not predicted to affect splicing (BP4). This variant has a SpliceAI score ≤ 0.20 (0.14) and evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score ≤ 2.0 (0.836)) (BP7). This variant is not present in any population databases (PM2_Supporting). In summary, the clinical significance of this variant is Likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV001049190 SCV001213229 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-10-13 criteria provided, single submitter clinical testing

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