ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1809C>T (p.Gly603=) (rs41314375)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000712074 SCV000260573 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205663 SCV000467518 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620782 SCV000735227 benign Cardiovascular phenotype 2015-06-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000712074 SCV000842488 benign not provided 2018-02-06 criteria provided, single submitter clinical testing
Color RCV000771250 SCV000903352 benign Arrhythmia 2018-03-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001952 SCV001159743 benign not specified 2019-03-13 criteria provided, single submitter clinical testing

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