ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1486C>G (p.Leu496Val) (rs9833275)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222054 SCV000269289 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Leu496Val in exon 11 of MYLK: This variant is not expected to have clinical sign ificance because it has been identified in 100.0% (362/362) of mixed American ch romosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.n lm.nih.gov/projects/SNP; dbSNP rs9833275).
PreventionGenetics,PreventionGenetics RCV000222054 SCV000315270 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358452 SCV000440328 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000222054 SCV000524351 benign not specified 2016-09-22 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000589856 SCV000604372 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589856 SCV000699790 benign not provided 2016-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621545 SCV000738289 benign Cardiovascular phenotype 2014-12-30 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 RCV000358452 SCV000900723 benign Thoracic aortic aneurysm and aortic dissection 2016-01-25 criteria provided, single submitter clinical testing
Mendelics RCV000614418 SCV001136586 benign Aortic aneurysm, familial thoracic 7 2019-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000614418 SCV000734241 benign Aortic aneurysm, familial thoracic 7 no assertion criteria provided clinical testing

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