Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Human Genetics, |
RCV000985159 | SCV002506522 | pathogenic | Developmental and epileptic encephalopathy, 26 | 2022-03-16 | criteria provided, single submitter | research | This variant meets our criteria to be classified as pathogenic based upon segregation studies, absence from controls, and in-silico evaluation of pathogenicity. |
Biochemical Molecular Genetic Laboratory, |
RCV000985159 | SCV001133159 | likely pathogenic | Developmental and epileptic encephalopathy, 26 | 2019-09-26 | no assertion criteria provided | clinical testing |