ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1264-12T>A

dbSNP: rs2129316889
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center, Zhengzhou University RCV001375685 SCV001572606 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 one patient and phase unknown in seven patients PP4: Patient's phenotype highly specific for gene

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.