ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.*1291_*1294del

dbSNP: rs886050025
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354187 SCV000382872 uncertain significance Ichthyosis, hystrix-like, with hearing loss 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000259327 SCV000382873 uncertain significance Keratitis ichthyosis and deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319140 SCV000382874 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000355379 SCV000382875 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274694 SCV000382876 uncertain significance Mutilating keratoderma 2016-06-14 criteria provided, single submitter 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.