ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile)

gnomAD frequency: 0.00012  dbSNP: rs111033527
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036431 SCV000060086 uncertain significance not specified 2010-02-03 criteria provided, single submitter clinical testing
Counsyl RCV000670464 SCV000795318 uncertain significance Pendred syndrome 2017-11-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785457 SCV002027008 uncertain significance Autosomal recessive nonsyndromic hearing loss 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000670464 SCV002027009 uncertain significance Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490496 SCV002804072 uncertain significance Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2022-01-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137559 SCV003825644 uncertain significance not provided 2022-05-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000670464 SCV001459868 uncertain significance Pendred syndrome 2020-01-08 no assertion criteria provided 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.