ClinVar Miner

Submissions for variant NM_004004.5(GJB2):c.-208G>T (rs1555342246)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000614617 SCV000731949 uncertain significance not specified 2017-09-22 criteria provided, single submitter clinical testing The c.-208G>T variant in GJB2 has not been previously reported in individuals wi th hearing loss. Data from large population studies is not sufficient to determ ine the frequency of this variant. This variant is located in the 5' UTR, and th e impact of this variant cannot be determined. In summary, the clinical signfic ance of the -208G>T variant is uncertain.

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.