Submissions for variant NM_002474.3(MYH11):c.4239C>T (p.Ala1413=)

gnomAD frequency: 0.00226  dbSNP: rs138573101

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000777820	SCV000317707	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-07-27	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.
Eurofins Ntd Llc (ga)	RCV000401865	SCV000333795	benign	not specified	2015-08-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000476295	SCV000556138	benign	Aortic aneurysm, familial thoracic 4	2024-01-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000777820	SCV000913816	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-08-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000777820	SCV001333986	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-11-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000401865	SCV001821261	benign	not specified	2021-08-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001711759	SCV001940812	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001711759	SCV002048795	benign	not provided	2021-07-30	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000777820	SCV004821232	benign	Familial thoracic aortic aneurysm and aortic dissection	2024-02-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000401865	SCV001807578	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000401865	SCV001931155	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000401865	SCV001952639	benign	not specified		no assertion criteria provided	clinical testing