Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Inherited Metabolic Diseases, |
RCV003110159 | SCV003762158 | pathogenic | Mitochondrial complex IV deficiency, nuclear type 1 | 2023-01-31 | criteria provided, single submitter | clinical testing |