ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.4876G>A (p.Gly1626Arg)

dbSNP: rs527236106
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
Dept Of Ophthalmology, Nagoya University RCV003888562 SCV004706747 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132659 SCV000172610 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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.