ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) (rs35176378)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756377 SCV000884170 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244209 SCV000319367 benign Cardiovascular phenotype 2015-07-20 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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769663 SCV000901071 likely benign Thoracic aortic aneurysm and aortic dissection 2017-05-12 criteria provided, single submitter clinical testing
Color RCV000769663 SCV000903202 benign Thoracic aortic aneurysm and aortic dissection 2018-03-07 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000471823 SCV000745477 benign Aortic aneurysm, familial thoracic 4 2015-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000126953 SCV000170484 benign not specified 2014-01-18 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,VU University Medical Center Amsterdam RCV000471823 SCV000745960 benign Aortic aneurysm, familial thoracic 4 2015-05-26 no assertion criteria provided clinical testing
Invitae RCV000471823 SCV000556086 benign Aortic aneurysm, familial thoracic 4 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000126953 SCV000306197 benign not specified criteria provided, single submitter clinical testing

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