Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000603748 | SCV000745206 | likely benign | Autosomal recessive ataxia due to ubiquinone deficiency | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001515600 | SCV001723704 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000603748 | SCV001769145 | benign | Autosomal recessive ataxia due to ubiquinone deficiency | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001515600 | SCV001845776 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000603748 | SCV000733990 | benign | Autosomal recessive ataxia due to ubiquinone deficiency | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001700243 | SCV001917133 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001700243 | SCV001956652 | benign | not specified | no assertion criteria provided | clinical testing |