ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.646-5C>G

dbSNP: rs201115971
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
Invitae RCV000797031 SCV000936570 likely benign Charcot-Marie-Tooth disease, type I 2022-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534615 SCV003666337 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.646-5C>G intronic alteration consists of a C to G substitution 5 nucleotides before coding exon 6 in the MPZ gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.