ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.690_692dup (p.Leu231dup)

dbSNP: rs1841284648
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect - Simons Searchlight RCV001265292 SCV001443409 likely pathogenic Infantile epilepsy syndrome 2017-03-03 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-03-03 and interpreted as Likely Pathogenic. Variant was initially reported on 2015-04-07 by GTR ID of laboratory name 1006. 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.