Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000995685 | SCV001149995 | likely pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency | 2019-05-29 | criteria provided, single submitter | clinical testing |