ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) (rs28505375)

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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 RCV000756375 SCV000884168 benign not provided 2017-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000245881 SCV000317713 benign Thoracic aortic aneurysm and aortic dissection 2015-07-17 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 RCV000618634 SCV000738328 benign Cardiovascular phenotype 2014-11-25 criteria provided, single submitter clinical testing
Color RCV000245881 SCV000910584 benign Thoracic aortic aneurysm and aortic dissection 2018-03-07 criteria provided, single submitter clinical testing
GeneDx RCV000126966 SCV000170497 benign not specified 2013-02-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000245881 SCV000395205 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292243 SCV000395206 benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000460816 SCV000556113 benign Aortic aneurysm, familial thoracic 4 2017-08-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000126966 SCV000711373 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Ala1846Ala in exon 40 of MYH11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 21.4% (942/4394) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs28505375).
PreventionGenetics RCV000126966 SCV000306209 benign not specified criteria provided, single submitter clinical testing

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