ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.699-16C>G

gnomAD frequency: 0.00001  dbSNP: rs567104964
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174339 SCV001337475 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001586021 SCV001820531 likely benign not provided 2018-07-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803254 SCV002048211 likely benign Charcot-Marie-Tooth disease type 4D 2021-08-13 criteria provided, single submitter clinical testing
Invitae RCV002068118 SCV002374943 benign Charcot-Marie-Tooth disease type 4 2024-01-31 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.