ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=)

gnomAD frequency: 0.00003  dbSNP: rs529842407
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194976 SCV000248810 uncertain significance not specified 2015-06-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726105 SCV000342016 uncertain significance not provided 2016-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000726105 SCV000729484 benign not provided 2020-03-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001132413 SCV001292073 benign Seizures, benign familial infantile, 3 2018-03-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001513697 SCV001721358 benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-12-11 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.