ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) (rs138462416)

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506867 SCV000605147 uncertain significance not specified 2016-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000506867 SCV000711199 likely benign not specified 2017-05-03 criteria provided, single submitter clinical testing p.Asp266Asn in exon 7 of SLC26A4: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, >10 mammals have an asparagine (Asn) at this position. It has been identi fied in 7/126120 European chromosomes by the Genome Aggregation Database (gnomAD , http://gnomad.broadinstitute.org; dbSNP rs138462416).

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.