ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6522+5dup (rs11405846)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000152969 SCV000314569 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352618 SCV000381326 benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407979 SCV000381327 benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308728 SCV000381328 benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365840 SCV000381329 benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407978 SCV000381330 benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001520596 SCV001729729 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2020-12-08 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001579176 SCV001806604 benign Bardet-Biedl syndrome 14 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001579177 SCV001806605 benign Joubert syndrome 5 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001579178 SCV001806606 benign Meckel syndrome, type 4 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001579179 SCV001806607 benign Senior-Loken syndrome 6 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001711212 SCV001945416 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Eurofins NTD, LLC RCV000152969 SCV000202408 benign not specified 2013-12-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000152969 SCV001740536 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000152969 SCV001951873 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000152969 SCV001975119 benign not specified no assertion criteria provided clinical testing

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