Submissions for variant NM_172056.2(KCNH2):c.1778T>G (p.Ile593Arg) (rs28928904)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
OMIM	RCV000015504	SCV000035769	pathogenic	Long QT syndrome 2	1996-05-15	no assertion criteria provided	literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust	RCV000057986	SCV000089506	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:8635257;PMID:16432067;PMID:16922724;PMID:9694858). 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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