ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.5820A>G (p.Glu1940=)

gnomAD frequency: 0.00052  dbSNP: rs140527143
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
Eurofins Ntd Llc (ga) RCV000269672 SCV000341043 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088365 SCV001027284 likely benign Myopathy, proximal, and ophthalmoplegia 2025-01-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001088365 SCV003809541 uncertain significance Myopathy, proximal, and ophthalmoplegia 2019-07-29 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.