ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) (rs28933384)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000119076 SCV000153795 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported in the following publications (PMID:9354783).
OMIM RCV000014418 SCV000034667 pathogenic Jervell and Lange-Nielsen syndrome 2 1997-11-01 no assertion criteria provided literature only

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