Submissions for variant NM_002474.3(MYH11):c.444C>T (p.His148=)

gnomAD frequency: 0.00003  dbSNP: rs569925780

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000506120	SCV000604348	benign	not specified	2017-03-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001189161	SCV001356391	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-06-10	criteria provided, single submitter	clinical testing
Invitae	RCV001430861	SCV001633607	likely benign	Aortic aneurysm, familial thoracic 4	2022-05-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000641618	SCV002008254	likely benign	not provided	2020-11-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001189161	SCV002638415	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-10-26	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.