ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4222del (p.Trp1408fs)

dbSNP: rs1571264574
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195988 SCV001366415 pathogenic Age related macular degeneration 2 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3,PP4.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787779 SCV000926787 likely pathogenic Stargardt disease 2018-04-01 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.