ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg)

gnomAD frequency: 0.00001  dbSNP: rs397516289
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036062 SCV000059714 uncertain significance not specified 2010-05-19 criteria provided, single submitter clinical testing
Counsyl RCV000672717 SCV000797851 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-02-13 criteria provided, single submitter clinical testing
GeneDx RCV004721249 SCV005327637 uncertain significance not provided 2024-03-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001831629 SCV002093103 uncertain significance Usher syndrome type 1B 2021-03-05 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.