ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3652-14G>C

gnomAD frequency: 0.00001  dbSNP: rs760789288
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
Color Diagnostics, LLC DBA Color Health RCV001178646 SCV001343149 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769930 SCV004635310 likely benign Aortic aneurysm, familial thoracic 4 2023-05-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001178646 SCV004832066 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-12-01 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.