ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.367-10_367-9dup

dbSNP: rs750610201
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001796356 SCV001218126 likely benign Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2024-01-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264165 SCV002543415 uncertain significance Autoinflammatory syndrome 2017-11-13 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.