ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1680C>T (p.Ile560=) (rs372725107)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555558 SCV000627430 likely benign Long QT syndrome 2017-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617241 SCV000735374 likely benign Cardiovascular phenotype 2016-05-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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