ClinVar Miner

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

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Total submissions: 10
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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 RCV001083230 SCV000259321 benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2019-12-31 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 benign Benign familial neonatal-infantile seizures 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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 2018-06-12 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Mendelics RCV000330573 SCV001135998 likely benign Benign familial neonatal-infantile seizures 2019-05-28 criteria provided, single submitter clinical testing

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