ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1903G>A (p.Val635Ile) (rs45618633)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038744 SCV000051560 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038744 SCV000062422 benign not specified 2008-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000038744 SCV000170116 benign not specified 2011-07-05 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.
PreventionGenetics,PreventionGenetics RCV000038744 SCV000306362 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000471539 SCV000557540 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621020 SCV000735442 benign Cardiovascular phenotype 2015-05-27 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,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000030117 SCV000901732 benign Cardiomyopathy 2016-04-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030117 SCV000052772 benign Cardiomyopathy 2013-12-31 no assertion criteria provided clinical testing

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