Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Inherited Metabolic Diseases, |
RCV000855767 | SCV000998982 | pathogenic | Infantile onset spinocerebellar ataxia | 2019-07-17 | criteria provided, single submitter | clinical testing |