ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.278A>G (p.Lys93Arg) (rs780197027)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475594 SCV000555890 likely benign Long QT syndrome 2016-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000611761 SCV000714618 likely benign not specified 2017-12-18 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 RCV000620636 SCV000736346 likely benign Cardiovascular phenotype 2016-10-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Color RCV000772085 SCV000905118 likely benign Arrhythmia 2018-10-30 criteria provided, single submitter clinical testing

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