ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1396A>T (p.Met466Leu)

gnomAD frequency: 0.00021  dbSNP: rs146685108
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 RCV000687268 SCV000814827 likely benign Familial hemophagocytic lymphohistiocytosis 5 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000687268 SCV002816167 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2021-12-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004768559 SCV005380350 uncertain significance not specified 2024-08-31 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.