Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003325653 | SCV004031519 | uncertain significance | not provided | 2023-03-02 | 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 |
All of Us Research Program, |
RCV004009739 | SCV004830089 | likely benign | Lynch syndrome | 2023-06-08 | criteria provided, single submitter | clinical testing |