ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1558-5C>T (rs114186001)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202805 SCV000257646 likely benign Long QT syndrome 2 2015-04-14 criteria provided, single submitter clinical testing
Invitae RCV000588127 SCV000283962 benign not provided 2019-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000243638 SCV000318666 benign Cardiovascular phenotype 2015-07-15 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
Illumina Clinical Services Laboratory,Illumina RCV000225842 SCV000467522 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588127 SCV000696019 benign not provided 2016-03-07 criteria provided, single submitter clinical testing
Color RCV000777756 SCV000913720 benign Arrhythmia 2018-03-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000588127 SCV001144311 benign not provided 2019-05-29 criteria provided, single submitter clinical testing

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