Submissions for variant NM_002474.3(MYH11):c.4296G>A (p.Leu1432=)

gnomAD frequency: 0.00001  dbSNP: rs373591888

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000828325	SCV000970011	likely benign	not provided	2021-05-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001502225	SCV001707052	likely benign	Aortic aneurysm, familial thoracic 4	2024-10-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001525102	SCV001735121	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-09-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001525102	SCV002629634	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-09-06	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	RCV001525102	SCV004821227	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-12-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004757291	SCV005365992	likely benign	NDE1-related disorder	2024-05-08	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).