ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5214C>T (p.Ile1738=)

gnomAD frequency: 0.00004  dbSNP: rs1439627120
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
GeneDx RCV000926775 SCV000724455 likely benign not provided 2021-06-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001176358 SCV001340322 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-11-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001455572 SCV001659336 likely benign Aortic aneurysm, familial thoracic 4 2024-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001176358 SCV003855354 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
All of Us Research Program, National Institutes of Health RCV001176358 SCV004821121 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-30 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.