ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.488T>C (p.Met163Thr)

gnomAD frequency: 0.02481  dbSNP: rs1805021
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153599 SCV000203139 benign not specified 2014-01-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269886 SCV000393783 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323090 SCV000393784 likely benign Enhanced S-cone syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001511486 SCV000604566 benign not provided 2023-10-26 criteria provided, single submitter clinical testing
Invitae RCV001511486 SCV001718745 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001511486 SCV001827235 benign not provided 2021-02-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888593 SCV004707838 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001275376 SCV001460506 benign Goldmann-Favre syndrome 2020-09-16 no assertion criteria provided 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.