ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) (rs139815570)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118245 SCV000152612 uncertain significance not provided 2013-04-15 criteria provided, single submitter clinical testing
GeneDx RCV000212987 SCV000171527 benign not specified 2013-01-15 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.
Illumina Clinical Services Laboratory,Illumina RCV000267564 SCV000417401 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.
Invitae RCV001079874 SCV000562153 benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716197 SCV000847034 benign History of neurodevelopmental disorder 2016-06-18 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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