Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Inherited Metabolic Diseases, |
RCV001327988 | SCV001519040 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2021-03-15 | criteria provided, single submitter | clinical testing |