Submissions for variant NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met)

gnomAD frequency: 0.00008  dbSNP: rs748516947

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000415719	SCV000543706	likely benign	Aortic aneurysm, familial thoracic 4	2024-10-06	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000415719	SCV000894981	uncertain significance	Aortic aneurysm, familial thoracic 4	2018-10-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000772071	SCV000905100	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-06-11	criteria provided, single submitter	clinical testing
Department of Vascular Biology, Beijing Anzhen Hospital	RCV001374827	SCV001439576	uncertain significance	Isolated thoracic aortic aneurysm	2018-09-01	criteria provided, single submitter	research
GeneDx	RCV001555668	SCV001777120	likely benign	not provided	2018-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001555668	SCV005051352	likely benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	MYH11: BS1
Ambry Genetics	RCV004955472	SCV005454432	likely benign	Inborn genetic diseases	2024-08-21	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.
Ambry Genetics	RCV000772071	SCV005455971	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-08-29	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.
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000415719	SCV000493768	uncertain significance	Aortic aneurysm, familial thoracic 4	2016-03-30	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004751513	SCV005365381	likely benign	MYH11-related disorder	2024-08-07	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).