ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.451C>A (p.His151Asn)

dbSNP: rs104894475
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
OMIM RCV000002133 SCV000022291 pathogenic Leber congenital amaurosis 13 2004-10-01 no assertion criteria provided literature only
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000002133 SCV001432291 pathogenic Leber congenital amaurosis 13 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.