ClinVar Miner

Submissions for variant NM_000326.5(RLBP1):c.346+3_346+8del

gnomAD frequency: 0.00878  dbSNP: rs56307321
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000306563 SCV000336146 benign not specified 2015-10-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267528 SCV000394115 likely benign Newfoundland cone-rod dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000320481 SCV000394116 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377460 SCV000394117 likely benign Pigmentary retinal dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000958695 SCV001105566 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000958695 SCV004033409 benign not provided 2024-02-01 criteria provided, single submitter clinical testing RLBP1: BP4, BS1, BS2

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.