ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1332G>A (p.Glu444=) (rs9770044)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232486 SCV000283958 benign Long QT syndrome 2018-01-12 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238681 SCV000296886 benign Long QT syndrome 2 2015-10-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000232486 SCV000467525 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621527 SCV000735230 benign Cardiovascular phenotype 2015-08-13 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
Color RCV000771251 SCV000903353 benign Arrhythmia 2018-03-16 criteria provided, single submitter clinical testing

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