ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.509-19C>T

dbSNP: rs562815180
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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 RCV004700684 SCV005205664 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-08-28 reviewed by expert panel curation NM_001754.5(RUNX1):c.509-19C>T is an intronic variant in intron 5. It is reported at very low levels in gnomAD (0.00003), thus it is not absent but does not meet thresholds for BA1 or BS1. The nucleotide and surrounding sequence are not evolutionarily conserved, and the variant is not predicted to affect splicing, with a SpliceAI score ≤ 0.20 and a phyloP100 way score ≤ 2.0 (1.319) (BP4, BP7). The variant has not been described in the literature. 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 RCV002203657 SCV002483292 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-11-28 criteria provided, single submitter clinical testing

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