Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000578243 | SCV000680251 | likely pathogenic | Combined oxidative phosphorylation defect type 23 | 2017-10-23 | criteria provided, single submitter | clinical testing |