Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001586952 | SCV001819680 | uncertain significance | not provided | 2019-08-05 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Invitae | RCV002579461 | SCV003506560 | benign | Adams-Oliver syndrome 5 | 2022-10-15 | criteria provided, single submitter | clinical testing |