ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3651C>T (p.His1217=)

gnomAD frequency: 0.00008  dbSNP: rs776731918
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000938817 SCV001084641 likely benign not provided 2023-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000938817 SCV004010104 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing MYO7A: BP4, BP7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000938817 SCV001956041 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000938817 SCV001975734 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001826980 SCV002086679 likely benign Usher syndrome type 1B 2020-01-28 no assertion criteria provided 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.