Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001581326 | SCV001812049 | uncertain significance | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002573270 | SCV003503954 | benign | Adams-Oliver syndrome 5 | 2023-12-11 | criteria provided, single submitter | clinical testing |