Submissions for variant NM_002474.3(MYH11):c.669G>A (p.Pro223=)

gnomAD frequency: 0.00001  dbSNP: rs562249787

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000228955	SCV000285806	likely benign	Aortic aneurysm, familial thoracic 4	2024-08-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001177092	SCV001341226	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-02-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001177092	SCV002663572	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-05-16	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.
All of Us Research Program, National Institutes of Health	RCV001177092	SCV004816837	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-12-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV005243165	SCV005894075	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	MYH11: BP4, BP7