ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.627C>T (p.Leu209=)

gnomAD frequency: 0.00021  dbSNP: rs567071026
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128313 SCV000171905 benign not specified 2014-02-06 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.
Genetic Services Laboratory, University of Chicago RCV000128313 SCV000249068 benign not specified 2016-08-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000128313 SCV000615519 benign not specified 2017-06-29 criteria provided, single submitter clinical testing
Invitae RCV000524692 SCV000633902 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316424 SCV000851031 likely benign Inborn genetic diseases 2016-06-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003884356 SCV004701010 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing STXBP1: BP4, BP7

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.