ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2265C>T (p.Ala755=) (rs144308070)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531217 SCV000627454 likely benign Long QT syndrome 2017-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000616014 SCV000714573 likely benign not specified 2017-07-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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