ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.805+19C>G

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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 RCV005001351 SCV005627297 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2025-01-15 reviewed by expert panel curation NM_001754.5(RUNX1):c.805+19C>G is an intronic variant which is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_Supporting). There is no predicted impact to splice consensus sequence nor the creation of new splice site and nucleotide is not highly conserved PhyloP score <2.0 (BP4, 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, PM2_supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV003070451 SCV003476736 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-08-20 criteria provided, single submitter clinical testing

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