Submissions for variant NM_002474.3(MYH11):c.3669C>T (p.Asp1223=)

gnomAD frequency: 0.00032  dbSNP: rs111940956

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000443137	SCV000522262	likely benign	not specified	2015-12-17	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.
Ambry Genetics	RCV001188681	SCV000738414	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-09-22	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.
Color Diagnostics, LLC DBA Color Health	RCV001188681	SCV001355807	benign	Familial thoracic aortic aneurysm and aortic dissection	2019-06-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000443137	SCV001437403	benign	not specified	2020-09-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001442532	SCV001645481	likely benign	Aortic aneurysm, familial thoracic 4	2024-12-18	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001188681	SCV004821313	benign	Familial thoracic aortic aneurysm and aortic dissection	2023-12-18	criteria provided, single submitter	clinical testing