ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) (rs150672943)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000306759 SCV000380455 likely benign Spastic paraplegia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595607 SCV000704525 likely benign not specified 2016-12-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625001 SCV000743472 likely benign Spastic paraplegia 10 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625001 SCV000744725 likely benign Spastic paraplegia 10 2016-01-04 criteria provided, single submitter clinical testing
Invitae RCV000860656 SCV001000775 likely benign not provided 2019-02-18 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.