Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000578337 | SCV000680198 | pathogenic | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 2017-10-25 | criteria provided, single submitter | clinical testing |