ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) (rs61751389)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics - Radboudumc,Radboudumc RCV000678514 SCV000804585 pathogenic Age-related macular degeneration 2 2016-09-01 no assertion criteria provided clinical testing
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408561 SCV000281942 pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504777 SCV000599004 pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research
Retina International RCV000085776 SCV000117918 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.