Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000033045 | SCV000845715 | likely pathogenic | Combined oxidative phosphorylation defect type 14 | 2018-06-13 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000033045 | SCV000056825 | pathogenic | Combined oxidative phosphorylation defect type 14 | 2012-10-15 | no assertion criteria provided | literature only |