Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519864 | SCV000620118 | uncertain significance | not provided | 2019-06-11 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Institute of Human Genetics, |
RCV001262973 | SCV001441039 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001262973 | SCV004177983 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |