ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val)

dbSNP: rs1554778420
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001370121 SCV001566586 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-09-02 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000656248 SCV004013346 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing PM2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000656248 SCV000778208 likely pathogenic not provided 2016-07-07 no assertion criteria provided 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.