ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.141C>A (p.Cys47Ter) (rs80358263)

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
GeneReviews RCV000020644 SCV000041167 pathologic Niemann-Pick disease, type C2 2008-07-22 no assertion criteria provided curation Converted during submission to Pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000020644 SCV000272928 pathogenic Niemann-Pick disease, type C2 2014-06-25 no assertion criteria provided research

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.