ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.588C>T (p.Ala196=)

gnomAD frequency: 0.00004  dbSNP: rs766469189
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
Color Diagnostics, LLC DBA Color Health RCV000774512 SCV000908215 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001489552 SCV001694094 likely benign Aortic aneurysm, familial thoracic 4 2024-07-18 criteria provided, single submitter clinical testing
GeneDx RCV002225726 SCV002503925 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV000774512 SCV002652533 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-05-09 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005240557 SCV005883697 likely benign not specified 2024-12-27 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.