ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.58G>T (p.Glu20Ter) (rs80358260)

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
Integrated Genetics/Laboratory Corporation of America RCV000586093 SCV000698700 pathogenic Niemann-Pick disease, type C 2017-06-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000008998 SCV000894036 pathogenic Niemann-Pick disease type C2 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000008998 SCV000029212 pathogenic Niemann-Pick disease type C2 2007-04-01 no assertion criteria provided literature only
GeneReviews RCV000008998 SCV000041174 pathologic Niemann-Pick disease type C2 2008-07-22 no assertion criteria provided curation Converted during submission to Pathogenic.
Counsyl RCV000008998 SCV000790656 pathogenic Niemann-Pick disease type C2 2017-03-31 no assertion criteria provided 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.