Submissions for variant NM_002474.3(MYH11):c.768C>T (p.Ile256=)

gnomAD frequency: 0.00001  dbSNP: rs756118392

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000868103	SCV001009400	likely benign	Aortic aneurysm, familial thoracic 4	2024-12-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001190609	SCV001358127	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-02-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001190609	SCV003911852	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-01-22	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003736927	SCV004563372	likely benign	not provided	2023-05-08	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001190609	SCV004816828	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-12-18	criteria provided, single submitter	clinical testing