ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs)

dbSNP: rs111033276
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036180 SCV000059832 likely pathogenic Rare genetic deafness 2008-03-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073537 SCV001239084 likely pathogenic Retinal dystrophy 2019-05-13 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001291607 SCV001480168 pathogenic not provided 2021-02-01 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.