ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.387-10G>A (rs2304015)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118257 SCV000171523 benign not specified 2013-05-17 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000118257 SCV000230389 benign not specified 2014-09-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118257 SCV000313739 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391868 SCV000417392 benign Seizures, benign familial infantile, 3 2018-01-13 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 RCV001083088 SCV000562134 benign Seizures, benign familial infantile, 3; Early infantile epileptic encephalopathy 11 2020-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000469925 SCV001145460 benign not provided 2019-07-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118257 SCV000152624 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.

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