ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) (rs35450031)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126464 SCV000169971 benign not specified 2013-01-31 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.
Invitae RCV001085284 SCV000291569 benign Early infantile epileptic encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329532 SCV000435172 likely benign KCNQ2-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000126464 SCV000595318 benign not specified 2017-05-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514475 SCV000610348 likely benign not provided 2017-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717943 SCV000848804 benign Seizures 2016-03-24 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneReviews RCV000678192 SCV000484641 pathogenic Early infantile epileptic encephalopathy 7 2016-03-31 no assertion criteria provided literature only EE (epileptic encephalopathy)

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