Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV002253062 | SCV002523171 | pathogenic | Mitochondrial complex 1 deficiency, nuclear type 34 | 2022-03-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002253062 | SCV003836262 | pathogenic | Mitochondrial complex 1 deficiency, nuclear type 34 | 2022-03-30 | criteria provided, single submitter | clinical testing |