ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1540G>T (p.Gly514Cys) (rs137854606)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009984 SCV000030205 pathogenic Cardiac conduction defect, nonprogressive 2001-02-22 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058427 SCV000089947 not provided Cardiac conduction defect, nonspecific no assertion provided literature only This variant has been reported as associated with Cardiac conduction disease in the following publications (PMID:11234013;PMID:19251209). 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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