Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001236881 | SCV001409621 | likely benign | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001236881 | SCV002008377 | uncertain significance | not provided | 2021-09-20 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |