ClinVar Miner

Submissions for variant NM_001080476.3(GRXCR1):c.79C>T (p.Arg27Ter)

gnomAD frequency: 0.00001  dbSNP: rs769983282
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
CeGaT Center for Human Genetics Tuebingen RCV001093376 SCV001250323 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497498 SCV002810427 likely pathogenic Autosomal recessive nonsyndromic hearing loss 25 2021-07-15 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.