ClinVar Miner

Submissions for variant NM_001358921.2(COQ2):c.254-5C>G

gnomAD frequency: 0.00013  dbSNP: rs776701765
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001910413 SCV002191247 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005031891 SCV005669859 uncertain significance Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to 2024-03-12 criteria provided, single submitter 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.