ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.184C>T (p.Pro62Ser)

gnomAD frequency: 0.00001  dbSNP: rs1355238974
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
Institute of Medical Molecular Genetics, University of Zurich RCV001352982 SCV001548071 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003490217 SCV004238399 likely pathogenic not provided 2023-02-09 criteria provided, single submitter clinical testing

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.