Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001763654 | SCV002001018 | uncertain significance | not provided | 2022-01-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |
Invitae | RCV002540463 | SCV003520908 | benign | Adams-Oliver syndrome 5 | 2022-10-04 | criteria provided, single submitter | clinical testing |