Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000824898 | SCV000965819 | likely pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency | 2016-01-04 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics Munich, |
RCV000824898 | SCV002764964 | likely pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency | 2020-08-17 | criteria provided, single submitter | clinical testing |