Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000995903 | SCV001150295 | likely pathogenic | Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 2018-07-30 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000995903 | SCV001428444 | pathogenic | Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 2020-08-13 | no assertion criteria provided | literature only |