ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) (rs12172926)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000175376 SCV000604377 benign not specified 2017-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622046 SCV000738340 benign Cardiovascular phenotype 2015-02-19 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175376 SCV000226849 benign not specified 2015-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000175376 SCV000525681 benign not specified 2016-09-30 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 RCV000345518 SCV000440302 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000175376 SCV000269295 benign not specified 2015-06-04 criteria provided, single submitter clinical testing p.Glu1009Glu in exon 18 of MYLK: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and has been identif ied in 51% (4359/8640) of East Asian chromosomes by the Exome Aggregation Conso rtium (ExAC, http://exac.broadinstitute.org; dbSNP rs12172926).
PreventionGenetics RCV000175376 SCV000315282 benign not specified criteria provided, single submitter clinical testing

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