ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.853-12_853-11insG (rs71082425)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 15
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000152981 SCV000202422 benign not specified 2015-01-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152981 SCV000314576 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398401 SCV000381622 benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314052 SCV000381623 benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371097 SCV000381624 benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274196 SCV000381625 benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331585 SCV000381626 benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001719946 SCV000714545 benign not provided 2018-06-11 criteria provided, single submitter clinical testing
Invitae RCV001520597 SCV001729730 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2020-12-08 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001578869 SCV001806218 benign Bardet-Biedl syndrome 14 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001578870 SCV001806219 benign Joubert syndrome 5 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001578871 SCV001806220 benign Meckel syndrome, type 4 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001578872 SCV001806221 benign Senior-Loken syndrome 6 2021-07-22 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000152981 SCV001740031 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000152981 SCV001969438 benign not specified 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.