Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481320 | SCV000567540 | uncertain significance | not provided | 2022-12-05 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |
Color Diagnostics, |
RCV001176774 | SCV001340825 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-02-06 | criteria provided, single submitter | clinical testing |