Submissions for variant NM_002474.3(MYH11):c.4177G>C (p.Gly1393Arg)

gnomAD frequency: 0.00050  dbSNP: rs143620567

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721137	SCV000234908	likely benign	not provided	2021-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001182255	SCV000739213	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-03-27	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860965	SCV001001155	likely benign	Aortic aneurysm, familial thoracic 4	2025-01-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001182255	SCV001347645	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-11-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004700550	SCV005202479	likely benign	not specified	2024-07-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937651	SCV004752386	likely benign	MYH11-related disorder	2022-08-22	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).