ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.2115_2127del (p.Glu706fs) (rs1131690784)

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
Centre for Genomic and Experimental Medicine,University of Edinburgh RCV000492536 SCV000323237 other Motor neuron disease 2016-08-31 criteria provided, single submitter case-control Loss-of-function but lacking segregation data

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.