Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pathology and Clinical Laboratory Medicine, |
RCV000985024 | SCV001438821 | likely pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | criteria provided, single submitter | clinical testing | ||
Biochemical Molecular Genetic Laboratory, |
RCV000985024 | SCV001132957 | pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 2019-08-25 | no assertion criteria provided | clinical testing |