ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2301G>A (p.Ser767=) (rs189457419)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549341 SCV000627484 likely benign Long QT syndrome 2017-09-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588785 SCV000696031 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618767 SCV000736325 likely benign Cardiovascular phenotype 2016-09-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000777938 SCV000914035 likely benign Arrhythmia 2018-07-02 criteria provided, single submitter clinical testing

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