ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) (rs112377790)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757514 SCV000885767 benign not provided 2017-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244031 SCV000317910 benign Thoracic aortic aneurysm and aortic dissection 2015-06-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Ambry Genetics RCV000619106 SCV000738306 benign Cardiovascular phenotype 2014-11-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000244031 SCV000901074 benign Thoracic aortic aneurysm and aortic dissection 2016-03-16 criteria provided, single submitter clinical testing
Color RCV000244031 SCV000902650 benign Thoracic aortic aneurysm and aortic dissection 2018-03-07 criteria provided, single submitter clinical testing
GeneDx RCV000126949 SCV000170480 benign not specified 2013-07-23 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000474754 SCV000744018 benign Aortic aneurysm, familial thoracic 4 2014-10-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000474754 SCV000745963 benign Aortic aneurysm, familial thoracic 4 2014-11-19 no assertion criteria provided clinical testing
Invitae RCV000474754 SCV000556132 benign Aortic aneurysm, familial thoracic 4 2018-01-23 criteria provided, single submitter clinical testing
PreventionGenetics RCV000126949 SCV000306190 benign not specified criteria provided, single submitter clinical testing

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