Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Clinical Genetics, |
RCV001527462 | SCV001738513 | likely pathogenic | Combined oxidative phosphorylation defect type 21 | no assertion criteria provided | clinical testing | ||
OMIM | RCV001527462 | SCV002098049 | pathogenic | Combined oxidative phosphorylation defect type 21 | 2022-02-18 | no assertion criteria provided | literature only |