Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000023415 | SCV000044706 | pathogenic | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 2010-03-01 | no assertion criteria provided | literature only | |
Wellcome Centre for Mitochondrial Research, |
RCV000508898 | SCV000575922 | pathogenic | Mitochondrial diseases | 2017-04-07 | no assertion criteria provided | clinical testing |