ClinVar Miner

Submissions for variant NM_172107.3(KCNQ2):c.2613G>T (p.Arg871Ser) (rs587780369)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117347 SCV000333184 likely benign not specified 2015-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000117347 SCV000241543 likely benign not specified 2016-02-17 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.
GeneReviews RCV000678205 SCV000484654 pathogenic Early infantile epileptic encephalopathy 7 2016-03-31 no assertion criteria provided literature only EE (epileptic encephalopathy)
Genetic Services Laboratory, University of Chicago RCV000117347 SCV000151530 likely benign not specified 2014-03-31 criteria provided, single submitter clinical testing
Invitae RCV000461909 SCV000555705 likely benign Early infantile epileptic encephalopathy 2017-10-12 criteria provided, single submitter clinical testing

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