ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1657C>T (p.Leu553=) (rs55925184)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038244 SCV000061912 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Leu553Leu in Exon 12 of KCNQ4: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 5.0% (350/7020) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs55925184)."
PreventionGenetics,PreventionGenetics RCV000038244 SCV000310606 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000038244 SCV000717803 benign not specified 2017-06-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000992242 SCV001144358 benign not provided 2018-11-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001420688 SCV001623032 benign Autosomal dominant nonsyndromic hearing loss 2A 2021-05-18 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.