ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.735C>T (p.Pro245=)

gnomAD frequency: 0.00001  dbSNP: rs902762123
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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 RCV004692690 SCV005196460 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-08-12 reviewed by expert panel curation NM_001754.5(RUNX1):c.735C>T (p.Pro245=) is a synonymous variant which has a SpliceAI score < 0.20 (BP4). A REVEL score is not available. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV001498413 SCV001703163 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2021-12-31 criteria provided, single submitter clinical testing

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