Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000143785 | SCV000188680 | pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 2014-08-19 | no assertion criteria provided | literature only | |
Mayo Clinic Laboratories, |
RCV000676305 | SCV000802062 | uncertain significance | not provided | 2017-08-22 | no assertion criteria provided | clinical testing |