ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.613+14C>G

dbSNP: rs2146234005
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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 RCV004595648 SCV005088249 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-06-24 reviewed by expert panel curation NM_001754.5(RUNX1):c.613+14C>G is an intronic variant. This variant is absent from gnomAD v2.1.1 (mean depth of coverage > 60) and from gnomAD v3.1.1 (mean depth of coverage 30) (PM2_Supporting). It is not predicted by SpliceAI to impact splicing (≤0.20). In addition, it occurs at a nucleotide that is not conserved as shown by phyloP100 (0.09) (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 RCV002129346 SCV002409732 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-05-20 criteria provided, single submitter clinical testing

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