Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Research Unit for Molecular Medicine, |
RCV000223949 | SCV000266360 | pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2016-03-14 | criteria provided, single submitter | research | |
Pediatric Metabolic Diseases, |
RCV000234837 | SCV000778307 | pathogenic | Myopathy with abnormal lipid metabolism | criteria provided, single submitter | case-control | ||
OMIM | RCV000234837 | SCV000292021 | pathogenic | Myopathy with abnormal lipid metabolism | 2014-07-02 | no assertion criteria provided | literature only |