ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.231C>T (p.Tyr77=)

gnomAD frequency: 0.00125  dbSNP: rs139934512
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000271 SCV001156881 benign Autosomal recessive nonsyndromic hearing loss 8 2018-08-31 criteria provided, single submitter clinical testing
GeneDx RCV001593172 SCV001816391 likely benign not provided 2020-02-11 criteria provided, single submitter clinical testing
Invitae RCV001593172 SCV002380825 benign not provided 2024-01-29 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.