ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2350C>T (p.Arg784Trp) (rs12720441)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208497 SCV000263982 likely pathogenic Brugada syndrome 2014-12-17 criteria provided, single submitter clinical testing
OMIM RCV000015514 SCV000035779 risk factor Long QT syndrome 2, acquired, susceptibility to 2002-04-23 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058108 SCV000089628 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:11997281;PMID:14760488;PMID:15840476;PMID:19841300). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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