ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.968-9G>A

dbSNP: rs1374004810
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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 RCV002264796 SCV002546384 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-06-30 reviewed by expert panel curation The c.968-9G>A intronic variant is not predicted by SpliceAI to impact splicing (BP4). In addition, an evolutionary conservation algorithm predicts the site as being non-conserved (PhyloP score = -4.74743 in GRCh38), and the variant is the reference nucleotide in one primate and/or three mammal species. Although the variant is absent from gnomAD v2 and v3 (PM2_Supporting), it has not been reported in cases or the literature. In summary, this variant meets the criteria to be classified as likely benign for hereditary thrombocytopenia and hematologic cancer predisposition syndrome based on the ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy VCEP: BP4, BP7, and PM2_Supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001421251 SCV001623774 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-01-28 criteria provided, single submitter clinical testing

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