ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys)

gnomAD frequency: 0.00001  dbSNP: rs1339046005
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517466 SCV000615443 uncertain significance not specified 2016-10-12 criteria provided, single submitter clinical testing
GeneDx RCV001704659 SCV000730985 likely benign not provided 2018-09-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809463 SCV002056545 uncertain significance Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704659 SCV004156405 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing SPTAN1: PP2

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.