ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1597G>A (p.Gly533Ser) (rs41314354)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171755 SCV000055201 likely benign Brugada syndrome 2013-06-24 criteria provided, single submitter research
Invitae RCV000228529 SCV000283974 likely benign Long QT syndrome 2018-01-04 criteria provided, single submitter clinical testing
Color RCV000777752 SCV000913715 likely benign Arrhythmia 2018-10-30 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058144 SCV000089664 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:16487223;PMID:14661677;PMID:16043162;PMID:19841300).

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