ClinVar Miner

Submissions for variant NM_003165.4(STXBP1):c.888C>T (p.Ile296=) (rs201302013)

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
GeneDx RCV000128316 SCV000171908 benign not specified 2013-05-03 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.
Invitae RCV001084365 SCV000633906 benign Early infantile epileptic encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713559 SCV000844181 benign not provided 2018-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718614 SCV000849478 likely benign History of neurodevelopmental disorder 2017-05-03 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128316 SCV000858216 benign not specified 2017-11-28 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.