ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp)

dbSNP: rs397514449
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009979 SCV000030200 pathogenic Long QT syndrome 3 2002-03-12 no assertion criteria provided literature only
OMIM RCV000009980 SCV000030201 pathogenic Brugada syndrome 1 2002-03-12 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530164 SCV001744908 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001530164 SCV001922737 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001530164 SCV001952540 pathogenic not provided no assertion criteria provided clinical testing

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