ClinVar Miner

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

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Total submissions: 8
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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 RCV001080555 SCV000563634 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715496 SCV000846325 likely benign Seizures 2017-06-29 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient or conflicting evidence;Subpopulation frequency in support of benign classification
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).
Athena Diagnostics Inc RCV000471444 SCV001144346 benign not provided 2019-06-17 criteria provided, single submitter clinical testing
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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