ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs)

dbSNP: rs797045244
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
Genetic Services Laboratory, University of Chicago RCV000195189 SCV000246427 pathogenic Hereditary spastic paraplegia 47 2014-02-19 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849337 SCV002106839 likely pathogenic Spastic paraplegia 2020-10-01 no assertion criteria provided literature only

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.