Submissions for variant NM_002474.3(MYH11):c.4773G>A (p.Arg1591=)

gnomAD frequency: 0.00005  dbSNP: rs747923542

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000774325	SCV000908027	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001446906	SCV001649959	likely benign	Aortic aneurysm, familial thoracic 4	2024-10-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000774325	SCV002638678	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-09-06	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.
CeGaT Center for Human Genetics Tuebingen	RCV003326493	SCV004033459	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	MYH11: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV000774325	SCV004821179	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-11	criteria provided, single submitter	clinical testing