ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=)

dbSNP: rs748080151
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761795 SCV000891990 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000761795 SCV001051353 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000761795 SCV001802646 likely benign not provided 2020-09-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272813 SCV001455179 uncertain significance Usher syndrome type 1B 2020-04-17 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700303 SCV001923762 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000761795 SCV001971529 likely benign not provided 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.