Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biochemical Molecular Genetic Laboratory, |
RCV000985206 | SCV001133233 | likely pathogenic | Mitochondrial complex 1 deficiency, nuclear type 23 | 2019-09-26 | no assertion criteria provided | clinical testing | |
OMIM | RCV000985206 | SCV002520571 | pathogenic | Mitochondrial complex 1 deficiency, nuclear type 23 | 2022-05-13 | no assertion criteria provided | literature only |