ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser)

dbSNP: rs121908360
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
GeneDx RCV001751743 SCV001986206 uncertain significance not provided 2019-04-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22412181, 29921053, 28717060, 24612839, 30896630)
Precision Medicine Center, Zhengzhou University RCV001375684 SCV001572605 pathogenic Autosomal recessive nonsyndromic hearing loss 4 no assertion criteria provided research PM2: not found in gnomAD PM3_VeryStrong: Pathogenic mutation confirmed in trans in three patients and phase unknown in five patients PP3: REVEL score >0.7 PP4: Patient's phenotype highly specific for gene
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital RCV001375684 SCV001949947 pathogenic Autosomal recessive nonsyndromic hearing loss 4 no assertion criteria provided case-control

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.