ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1459G>A (p.Val487Met)

gnomAD frequency: 0.00195  dbSNP: rs150174842
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000892632 SCV001036521 likely benign Familial hemophagocytic lymphohistiocytosis 5 2025-02-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264054 SCV002542986 uncertain significance Autoinflammatory syndrome 2018-06-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930830 SCV004745022 likely benign STXBP2-related disorder 2022-03-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.