Submissions for variant NM_002474.3(MYH11):c.120G>A (p.Ser40=)

gnomAD frequency: 0.00024  dbSNP: rs144275008

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001180039	SCV001344887	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-12-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001488797	SCV001693322	likely benign	Aortic aneurysm, familial thoracic 4	2024-12-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000544665	SCV001827463	likely benign	not provided	2020-09-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001180039	SCV002649794	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-07-04	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	RCV003323602	SCV004028848	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001180039	SCV004816893	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-02-05	criteria provided, single submitter	clinical testing