Submissions for variant NM_002474.3(MYH11):c.2112G>A (p.Val704=)

gnomAD frequency: 0.00002  dbSNP: rs781085663

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086323	SCV000641008	likely benign	Aortic aneurysm, familial thoracic 4	2024-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000540330	SCV000715636	likely benign	not provided	2021-07-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001178110	SCV001342466	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001178110	SCV002727001	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-08-11	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	RCV003330770	SCV004039275	benign	not specified	2023-08-24	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001178110	SCV004823596	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-12-15	criteria provided, single submitter	clinical testing