ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1660-9T>C (rs7552783)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000606510 SCV000745207 benign Coenzyme Q10 deficiency, primary, 4 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000606510 SCV000733991 benign Coenzyme Q10 deficiency, primary, 4 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406694 SCV000355270 benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285548 SCV000355271 benign Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676182 SCV000801935 benign not provided 2016-02-11 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.