Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001561677 | SCV001784321 | uncertain significance | not provided | 2019-07-09 | criteria provided, single submitter | clinical testing | 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; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001832766 | SCV002078023 | uncertain significance | Autosomal recessive polycystic kidney disease | 2020-06-06 | no assertion criteria provided | clinical testing |