Submissions for variant NM_002474.3(MYH11):c.3927C>T (p.Asp1309=)

gnomAD frequency: 0.00007  dbSNP: rs150712107

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703466	SCV000513775	likely benign	not provided	2019-10-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000459838	SCV000556119	likely benign	Aortic aneurysm, familial thoracic 4	2024-12-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001177603	SCV001341841	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-11-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001177603	SCV002622088	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-12-02	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	RCV001177603	SCV004821279	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001703466	SCV005431964	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	MYH11: BP4, BP7