Submissions for variant NM_002474.3(MYH11):c.4674G>A (p.Thr1558=)

gnomAD frequency: 0.00001  dbSNP: rs778499852

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000538273	SCV000641048	likely benign	Aortic aneurysm, familial thoracic 4	2023-10-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000608746	SCV000715483	likely benign	not specified	2017-01-30	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	RCV001186897	SCV001353506	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-07-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001186897	SCV002634420	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-07-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.