ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) (rs2228980)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118255 SCV000152622 benign not specified 2014-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000118255 SCV000171503 benign not specified 2013-06-20 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 RCV000427650 SCV000259321 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118255 SCV000313737 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118255 SCV000336760 benign not specified 2015-11-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330573 SCV000417422 likely benign not specified 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368929 SCV000417423 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000427650 SCV000510564 likely benign not provided 2016-06-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV000715548 SCV000846377 likely benign History of neurodevelopmental disorder 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence

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