ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2104-2A>G

dbSNP: rs1567934754
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diseases Diagnostic Center, Koc University Hospital RCV000786074 SCV000864407 likely pathogenic Hereditary spastic paraplegia 7 2018-12-18 no assertion criteria provided 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.