Submissions for variant NM_002474.3(MYH11):c.2802G>A (p.Glu934=)

gnomAD frequency: 0.00024  dbSNP: rs138977949

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000313767	SCV000395361	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001579989	SCV000513770	likely benign	not provided	2020-03-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000456947	SCV000556130	likely benign	Aortic aneurysm, familial thoracic 4	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000313767	SCV000739219	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-06-29	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.
Color Diagnostics, LLC DBA Color Health	RCV000313767	SCV000913750	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-09-28	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000313767	SCV001334002	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-06-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003235191	SCV003934710	benign	not specified	2023-05-08	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000313767	SCV004823534	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-02-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579989	SCV001809288	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579989	SCV001927552	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001579989	SCV001959582	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579989	SCV001970304	likely benign	not provided		no assertion criteria provided	clinical testing