ClinVar Miner

Submissions for variant NM_015697.8(COQ2):c.64A>T (p.Arg22Ter) (rs112033303)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124539 SCV000167972 benign not specified 2012-03-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000124539 SCV000312590 likely benign not specified 2016-02-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000124539 SCV000538728 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 198/11788=1.67%
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000124539 SCV000854949 benign not specified 2017-07-13 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676770 SCV000802571 benign not provided 2016-03-07 no assertion criteria provided clinical testing
SingHealth Duke-NUS Institute of Precision Medicine RCV000721994 SCV000853153 uncertain significance Coenzyme Q10 deficiency, primary 1 2017-06-07 no assertion criteria provided curation

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.