ClinVar Miner

Submissions for variant NM_000891.2(KCNJ2):c.660C>T (p.Ser220=) (rs7221086)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249648 SCV000318518 benign Cardiovascular phenotype 2015-07-28 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
Illumina Clinical Services Laboratory,Illumina RCV000261798 SCV000405997 benign Andersen Tawil syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319269 SCV000405998 benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376216 SCV000405999 benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030106 SCV000052761 benign Cardiac arrhythmia 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Invitae RCV000475693 SCV000554353 benign Andersen Tawil syndrome; Short QT syndrome 3 2017-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000245366 SCV000305571 benign not specified criteria provided, single submitter clinical testing

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