ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.444C>G (p.Val148=) (rs899764342)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000732457	SCV000860419	uncertain significance	not provided	2018-04-05	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.