ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.406G>T (p.Glu136Ter)

dbSNP: rs1257334132
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
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199716 SCV001162556 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Blueprint Genetics RCV001073492 SCV001239035 likely pathogenic Retinal dystrophy 2019-03-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091351 SCV001247331 pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001091351 SCV001447912 pathogenic not provided 2020-10-23 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.