ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.1226T>C (p.Phe409Ser)

dbSNP: rs2546963948
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287261 SCV002577500 uncertain significance Hereditary spastic paraplegia 50 2022-03-24 criteria provided, single submitter clinical testing PM2, PM5, PP3

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.