ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.23C>T (p.Ala8Val) (rs972201049)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431050 SCV000515929 likely pathogenic not provided 2017-11-09 criteria provided, single submitter clinical testing The A8V variant in the KCNH2 gene has been published previously as a pathogenic variant associated with long-QT syndrome (Sale et al., 2008). Based on currently available evidence, A8V is a strong candidate for a pathogenic variant. However, the possibility it is a rare benign variant cannot be excluded.
Fulgent Genetics,Fulgent Genetics RCV000763172 SCV000893761 likely pathogenic Short QT syndrome 1; Long QT syndrome 2 2018-10-31 criteria provided, single submitter clinical testing

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