ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) (rs62637012)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005908 SCV000026090 pathogenic Leber congenital amaurosis 4 2000-01-01 no assertion criteria provided literature only
GeneReviews RCV000005908 SCV000086964 pathologic Leber congenital amaurosis 4 2013-05-02 no assertion criteria provided curation Converted during submission to Pathogenic.
Retina International RCV000086231 SCV000118377 not provided not provided no assertion provided not provided

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.