ClinVar Miner

Submissions for variant NM_014191.3(SCN8A):c.2098A>T (p.Ile700Leu) (rs187153231)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715981 SCV000846814 benign History of neurodevelopmental disorder 2016-02-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000174575 SCV000615118 benign not specified 2016-12-29 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000435588 SCV000511673 benign not provided 2016-11-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174575 SCV000225895 benign not specified 2015-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000174575 SCV000171583 benign not specified 2014-02-18 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.
Genetic Services Laboratory, University of Chicago RCV000174575 SCV000248826 benign not specified 2016-09-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334650 SCV000379726 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226538 SCV000289935 benign Early infantile epileptic encephalopathy 2017-12-21 criteria provided, single submitter clinical testing

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