Submissions for variant NM_002474.3(MYH11):c.585G>A (p.Leu195=)

gnomAD frequency: 0.00010  dbSNP: rs146695946

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000470394	SCV000520774	likely benign	not provided	2021-05-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001177604	SCV000739172	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-11-07	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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680561	SCV000807974	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001177604	SCV001341842	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-05-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001395688	SCV001597402	likely benign	Aortic aneurysm, familial thoracic 4	2021-09-24	criteria provided, single submitter	clinical testing