ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.426C>A (p.Phe142Leu) (rs397516877)

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 RCV000037852 SCV000061514 pathogenic Rare genetic deafness 2011-09-02 criteria provided, single submitter clinical testing The Phe142Leu variant GJB2 has been reported as a dominant variant in one indivi dual with sensorineural hearing loss and mucocutaneous findings (Brown 2003). Th is variant was shown to have occurred de novo and was absent in 214 control chro mosomes. This data meets our criteria for pathogenicity.

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.