ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) (rs147522594)

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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 RCV000189158 SCV000152616 likely benign not specified 2016-05-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724214 SCV000228378 uncertain significance not provided 2014-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000189158 SCV000242790 likely benign not specified 2017-03-07 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.
Illumina Clinical Services Laboratory,Illumina RCV000285108 SCV000417450 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340147 SCV000417451 likely benign not specified 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000724214 SCV000562135 likely benign not provided 2018-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717447 SCV000848298 likely benign History of neurodevelopmental disorder 2016-11-18 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)

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