ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.720G>A (p.Pro240=) (rs899939755)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468301 SCV000555909 likely benign Long QT syndrome 2016-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621469 SCV000736372 likely benign Cardiovascular phenotype 2016-11-10 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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