ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)

dbSNP: rs1702008435
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090355 SCV001245856 pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing
OMIM RCV001200929 SCV001371866 pathogenic Episodic ataxia, type 9 2022-12-08 no assertion criteria provided literature only
OMIM RCV001260973 SCV001438344 pathogenic Developmental and epileptic encephalopathy, 11 2022-12-08 no assertion criteria provided literature only
GenomeConnect - Simons Searchlight RCV001265319 SCV001443436 likely pathogenic Complex neurodevelopmental disorder 2018-09-05 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-05 and interpreted as Likely Pathogenic. Variant was initially reported on 2014-09-16 by GTR ID of laboratory name North East Thames Genetic Service. The reporting laboratory might also submit to ClinVar.

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.