ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.614-20C>T

gnomAD frequency: 0.00001  dbSNP: rs767418895
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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 RCV005001271 SCV005627485 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2025-01-15 reviewed by expert panel curation NM_001754.5(RUNX1):c.614-20C>T is an intronic variant which meets criteria for likely benign classification. It has a SpliceAI score ≤ 0.20 (0) (BP4), and evolutionary conservation algorithms predict the site as not being conserved (PhyloP score ≤ 2.0 (-0.44)) (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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002214870 SCV002364070 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-06-10 criteria provided, single submitter clinical testing

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