ClinVar Miner

Submissions for variant NM_001040113.2(MYH11):c.5832G>A (p.Ser1944=)

gnomAD frequency: 0.00003  dbSNP: rs373899395
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533840 SCV000641082 likely benign Aortic aneurysm, familial thoracic 4 2024-11-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183476 SCV001349218 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-05-13 criteria provided, single submitter clinical testing
GeneDx RCV001584279 SCV001811693 likely benign not provided 2020-06-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing
All of Us Research Program, National Institutes of Health RCV001183476 SCV004815476 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586775 SCV005076257 likely benign not specified 2024-04-14 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.