ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) (rs80358269)

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
Mendelics RCV000020610 SCV001135234 benign Autosomal dominant nonsyndromic hearing loss 2A 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001753424 SCV001986116 uncertain significance not provided 2020-12-04 criteria provided, single submitter clinical testing Observed in a patient with hearing loss in published literature (Su et al., 2007); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 17033161, 30245029, 20301388, 31434872, 24616153)
GeneReviews RCV000020610 SCV000041110 uncertain significance Autosomal dominant nonsyndromic hearing loss 2A 2018-05-10 no assertion criteria provided literature only

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.