ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) (rs1050162)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757509 SCV000885762 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000245108 SCV000317690 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 RCV000622103 SCV000738275 benign Cardiovascular phenotype 2014-11-19 criteria provided, single submitter clinical testing
Color RCV000245108 SCV000910507 benign Thoracic aortic aneurysm and aortic dissection 2018-03-07 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000601977 SCV000745474 benign Aortic aneurysm, familial thoracic 4 2017-06-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000601977 SCV000733495 benign Aortic aneurysm, familial thoracic 4 no assertion criteria provided clinical testing
GeneDx RCV000146505 SCV000170494 benign not specified 2012-11-02 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.
Genetic Services Laboratory, University of Chicago RCV000146505 SCV000193795 likely benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000601977 SCV000745956 benign Aortic aneurysm, familial thoracic 4 2014-11-19 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000245108 SCV000395211 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304468 SCV000395212 benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000146505 SCV000269273 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Lys1820Lys in exon 39 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 49.2% (4229/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1050162).
PreventionGenetics RCV000146505 SCV000306206 benign not specified criteria provided, single submitter clinical testing

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