ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.*1972del

dbSNP: rs886055831
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
Illumina Laboratory Services, Illumina RCV000269834 SCV000429094 uncertain significance Hereditary sensory and autonomic neuropathy type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000308602 SCV000429095 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366089 SCV000429096 uncertain significance Spastic Paraplegia, Recessive 2016-06-14 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.