ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.855C>T (p.Cys285=)

gnomAD frequency: 0.00036  dbSNP: rs373861624
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001523410 SCV001733108 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001523410 SCV001748263 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing DEAF1: BP4, BP7
Genetic Services Laboratory, University of Chicago RCV001821845 SCV002066976 benign not specified 2017-09-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523410 SCV005220872 likely benign not provided criteria provided, single submitter not provided

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.