Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Genetics and Mitochondrial Research group, |
RCV000408887 | SCV000267938 | pathogenic | not provided | 2016-05-06 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000850132 | SCV000992296 | pathogenic | Myopathy, congenital, with tremor | 2023-03-10 | no assertion criteria provided | literature only |