Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wellcome Centre for Mitochondrial Research, |
RCV000754101 | SCV000264780 | pathogenic | Mitochondrial disease | 2016-03-08 | no assertion criteria provided | clinical testing | |
OMIM | RCV000225275 | SCV000282034 | pathogenic | Combined oxidative phosphorylation defect type 30 | 2019-09-10 | no assertion criteria provided | literature only |