ClinVar Miner

Submissions for variant NM_005391.5(PDK3):c.249-9del

dbSNP: rs374771377
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173910 SCV001337026 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001664730 SCV001875390 benign not provided 2020-02-20 criteria provided, single submitter clinical testing
Invitae RCV002068102 SCV002407352 benign Charcot-Marie-Tooth disease X-linked dominant 6 2023-12-23 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.