ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) (rs138282349)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193382 SCV000247679 uncertain significance not specified 2015-05-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000193382 SCV000334784 likely benign not specified 2015-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000193382 SCV000524869 likely benign not specified 2018-02-05 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 RCV000471444 SCV000563634 likely benign not provided 2019-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715496 SCV000846325 likely benign Seizures 2017-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000193382 SCV000864308 likely benign not specified 2017-04-28 criteria provided, single submitter clinical testing BS1,BP4,BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656028 SCV000588304 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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