ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg) (rs137853969)

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
GeneReviews RCV000056155 SCV000087237 pathologic Autosomal dominant nonsyndromic hearing loss 2A 2013-06-20 no assertion criteria provided curation Converted during submission to Pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000144421 SCV000189476 not provided not provided no assertion provided not provided

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.