ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) (rs115012103)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168312 SCV000218995 benign not provided 2018-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242960 SCV000319802 benign Cardiovascular phenotype 2015-06-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351711 SCV000368923 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392796 SCV000368924 likely benign Familial hyperaldosteronism 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000441037 SCV000513348 benign not specified 2015-11-04 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.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852660 SCV000995366 benign Long QT syndrome; Dilated cardiomyopathy 2018-05-15 criteria provided, single submitter clinical testing

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