ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.614-15T>C

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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 RCV005001324 SCV005627349 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-11-04 reviewed by expert panel curation NM_001754.5(RUNX1):c.614-15T>C is an intronic variant which has not been featured in functional or case studies. Computational data has been used to evaluate this variant. It has a SpliceAI score of 0 and a PhyloP score of 1.47, allowing for the application of both BP4 and 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 RCV002847177 SCV003224650 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-07-25 criteria provided, single submitter clinical testing

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