ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys) (rs28937588)

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
OMIM RCV000006622 SCV000026805 pathogenic Autosomal dominant nonsyndromic hearing loss 2A 1999-02-05 no assertion criteria provided literature only
GeneReviews RCV000006622 SCV000041117 pathologic Autosomal dominant nonsyndromic hearing loss 2A 2011-02-17 no assertion criteria provided curation Converted during submission to Pathogenic.

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.