ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg)

dbSNP: rs199472693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes RCV003319309 SCV004024207 likely pathogenic Long QT syndrome 1 2023-08-01 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000057686 SCV000089205 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:19862833). 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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