ClinVar Miner

Submissions for variant NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu) (rs116424900)

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 RCV000625410 SCV000745264 likely benign Coenzyme Q10 deficiency, primary, 2 2017-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000127437 SCV000171002 benign not specified 2014-04-15 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625410 SCV000745857 likely benign Coenzyme Q10 deficiency, primary, 2 2016-11-14 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365819 SCV000362002 uncertain significance Coenzyme Q10 deficiency, primary 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676293 SCV000802050 likely benign not provided 2017-11-01 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.