ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1873G>A (p.Gly625Arg) (rs199473015)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000735253 SCV000863462 uncertain significance Long QT syndrome 2 2018-07-30 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058177 SCV000089697 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:16487223).

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