ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) (rs113964173)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126968 SCV000170499 benign not specified 2013-06-23 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000126968 SCV000269275 benign not specified 2015-12-11 criteria provided, single submitter clinical testing p.Glu1899Asp in exon 41 of MYH11: This variant is not expected to have clinical significance because it has been identified in 0.5% (623/121214) of pan ethnic c hromosomes including 3 homozygous individuals by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org/; dbSNP rs113964173).
PreventionGenetics,PreventionGenetics RCV000126968 SCV000306210 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248231 SCV000317336 benign Cardiovascular phenotype 2014-10-06 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
Invitae RCV000755310 SCV000556101 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755310 SCV000604339 benign not provided 2017-12-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000475215 SCV000744011 benign Aortic aneurysm, familial thoracic 4 2017-07-28 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000475215 SCV000745469 likely benign Aortic aneurysm, familial thoracic 4 2017-05-31 criteria provided, single submitter clinical testing
Color RCV000776051 SCV000910661 benign Thoracic aortic aneurysm and aortic dissection 2018-03-16 criteria provided, single submitter clinical testing

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