Submissions for variant NM_002474.3(MYH11):c.1512C>T (p.Ile504=)

gnomAD frequency: 0.00028  dbSNP: rs149630866

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126983	SCV000170514	benign	not specified	2014-05-27	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.
Ambry Genetics	RCV000769675	SCV000317676	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-07-12	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	RCV000460520	SCV000556096	likely benign	Aortic aneurysm, familial thoracic 4	2024-01-22	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659903	SCV000781806	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769675	SCV000901087	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-08-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769675	SCV001353186	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000126983	SCV003934713	benign	not specified	2023-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003415935	SCV004141213	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	MYH11: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV000769675	SCV004816779	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-02-05	criteria provided, single submitter	clinical testing