Submissions for variant NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) (rs62640574)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 2

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Retina International	RCV000086293	SCV000118439	not provided	not provided		no assertion provided	not provided
Sharon lab,Hadassah-Hebrew University Medical Center	RCV001002936	SCV001160971	pathogenic	Leber congenital amaurosis	2019-06-23	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.