ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) (rs141815642)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715710 SCV000846541 benign History of neurodevelopmental disorder 2017-09-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Subpopulation frequency in support of benign classification,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000118253 SCV000171530 benign not specified 2012-04-09 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 RCV000118253 SCV000152620 benign not specified 2013-03-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385447 SCV000417406 likely benign Benign familial neonatal-infantile seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293557 SCV000417407 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204044 SCV000260903 benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118253 SCV000313736 benign not specified criteria provided, single submitter clinical testing

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