ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.3076C>T (p.Arg1026Cys) (rs117217073)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715696 SCV000846527 benign History of neurodevelopmental disorder 2016-05-06 criteria provided, single submitter clinical testing
GeneDx RCV000118280 SCV000171586 benign not specified 2013-11-25 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 RCV000118280 SCV000152652 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000324566 SCV000379734 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226089 SCV000289938 benign Early infantile epileptic encephalopathy 2017-08-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118280 SCV000312084 benign not specified criteria provided, single submitter clinical testing

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