ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.593C>T (p.Ser198Phe)

dbSNP: rs1602349716
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
MGZ Medical Genetics Center RCV002290040 SCV002579798 likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1 2021-12-14 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789822 SCV000929206 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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.