Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Clinical Genetics, |
RCV002226934 | SCV002505839 | likely pathogenic | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2021-08-01 | criteria provided, single submitter | clinical testing |