ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.471C>T (p.Tyr157=) (rs145101354)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731741 SCV000859590 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Invitae RCV001088848 SCV001104489 likely benign Niemann-Pick disease type C1 2019-12-31 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.