ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn)

dbSNP: rs199472905
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003137596 SCV003814008 uncertain significance not provided 2021-09-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003137596 SCV004226794 likely pathogenic not provided 2023-02-15 criteria provided, single submitter clinical testing PP2, PP3, PM1, PM2_supporting, PS4_supporting
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000057905 SCV000089425 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:19716085). 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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