ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1719G>A (p.Ala573=) (rs776097223)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200042 SCV000254342 likely benign Long QT syndrome 2017-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000437620 SCV000520229 likely benign not specified 2017-01-09 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.
Ambry Genetics RCV000621352 SCV000737437 likely benign Cardiovascular phenotype 2016-09-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000777605 SCV000913472 likely benign Arrhythmia 2018-03-23 criteria provided, single submitter clinical testing

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