ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4786A>C (p.Arg1596=)

gnomAD frequency: 0.00002  dbSNP: rs754931029
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190890 SCV001358521 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-11 criteria provided, single submitter clinical testing
Invitae RCV001418311 SCV001620536 likely benign Aortic aneurysm, familial thoracic 4 2022-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001190890 SCV002638201 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-08-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003117627 SCV003800851 likely benign not specified 2023-01-09 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.