ClinVar Miner

Submissions for variant NM_000891.2(KCNJ2):c.1146C>T (p.Leu382=) (rs173135)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245055 SCV000317567 benign Cardiovascular phenotype 2015-06-24 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
GeneDx RCV000126419 SCV000169926 benign not specified 2011-07-07 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 RCV000267274 SCV000406000 benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324788 SCV000406001 benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381568 SCV000406002 benign Andersen Tawil syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000126419 SCV000305570 benign not specified criteria provided, single submitter clinical testing

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