ClinVar Miner

Submissions for variant NM_000891.2(KCNJ2):c.-2C>T (rs144760658)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617614 SCV000737498 likely benign Cardiovascular phenotype 2018-01-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Other data supporting benign classification
GeneDx RCV000437119 SCV000513342 benign not specified 2016-08-24 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 RCV000380135 SCV000405985 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286728 SCV000405986 likely benign Andersen Tawil syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344021 SCV000405987 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing

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