ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg) (rs183521702)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000175288 SCV000226754 uncertain significance not provided 2015-06-02 criteria provided, single submitter clinical testing
Invitae RCV001087376 SCV000561952 likely benign Primary ciliary dyskinesia 2020-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000175288 SCV001768237 uncertain significance not provided 2020-01-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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.