ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) (rs111033190)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727027 SCV000705030 likely pathogenic not provided 2017-02-06 criteria provided, single submitter clinical testing
Counsyl RCV000597784 SCV000790085 likely pathogenic Deafness, autosomal recessive 1A 2017-03-06 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678865 SCV000805058 likely pathogenic Hearing loss 2014-04-22 no assertion criteria provided 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.