Submissions for variant NM_002474.3(MYH11):c.1794G>A (p.Pro598=)

gnomAD frequency: 0.00001  dbSNP: rs749272388

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680558	SCV000807971	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000842166	SCV000984164	likely benign	not provided	2018-04-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV001178890	SCV001343454	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-07-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002532190	SCV003512114	likely benign	Aortic aneurysm, familial thoracic 4	2023-08-16	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001178890	SCV004823640	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-04-10	criteria provided, single submitter	clinical testing