ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.1058G>A (p.Gly353Glu)

gnomAD frequency: 0.00002  dbSNP: rs267600817
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001494242 SCV001698894 likely benign Dilated cardiomyopathy 1J 2023-12-29 criteria provided, single submitter clinical testing
GeneDx RCV001753479 SCV002007195 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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.