ClinVar Miner

Submissions for variant NM_015713.5(RRM2B):c.790-2A>G

dbSNP: rs1441534206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762536 SCV000892865 likely pathogenic not provided 2022-08-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000762536 SCV002540963 uncertain significance not provided 2021-04-06 criteria provided, single submitter clinical testing
GeneDx RCV000762536 SCV002765189 likely pathogenic not provided 2022-12-13 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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