Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Molecular Genetics |
RCV001171570 | SCV001334361 | likely pathogenic | not provided | 2019-04-15 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001172349 | SCV001335398 | likely pathogenic | Intellectual disability, autosomal dominant 6 | 2017-04-04 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed). |
Centogene AG - |
RCV001809986 | SCV002059248 | likely pathogenic | Developmental and epileptic encephalopathy, 27 | 2018-09-19 | criteria provided, single submitter | clinical testing |