Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV000985120 | SCV004807158 | pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency | 2024-03-26 | criteria provided, single submitter | clinical testing | |
Department Of Translational Genomics |
RCV000162171 | SCV000196457 | likely pathogenic | Cerebellar ataxia; Nystagmus; Cerebellar atrophy; Dysmetria; Slurred speech; Dysdiadochokinesis; Slightly reduced reflexes | 2014-12-01 | no assertion criteria provided | research | |
Biochemical Molecular Genetic Laboratory, |
RCV000985120 | SCV001133099 | likely pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency | 2019-09-26 | no assertion criteria provided | clinical testing |