Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV000985106 | SCV004808005 | uncertain significance | Combined oxidative phosphorylation defect type 23 | 2024-03-29 | criteria provided, single submitter | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV000985106 | SCV001133076 | likely pathogenic | Combined oxidative phosphorylation defect type 23 | 2019-09-26 | no assertion criteria provided | clinical testing |