Submissions for variant NM_002474.3(MYH11):c.4095C>T (p.His1365=)

gnomAD frequency: 0.00011  dbSNP: rs374454281

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126947	SCV000170478	benign	not specified	2014-06-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232924	SCV000285790	likely benign	Aortic aneurysm, familial thoracic 4	2024-01-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000262576	SCV000395280	uncertain significance	Lissencephaly, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000777692	SCV000913625	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000777692	SCV001333988	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-02-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000777692	SCV002630561	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-04-11	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	RCV000777692	SCV004821254	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-02-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000126947	SCV005184586	benign	not specified	2024-05-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945134	SCV004760953	likely benign	MYH11-related disorder	2021-04-27	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).