ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3574-9del (rs10717563)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000082247 SCV000114196 benign not specified 2013-11-20 criteria provided, single submitter clinical testing
Invitae RCV001080740 SCV000252869 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2020-11-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082247 SCV000314547 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313246 SCV000381497 benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370292 SCV000381498 benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268851 SCV000381499 benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307583 SCV000381500 benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364690 SCV000381501 benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000827178 SCV000968806 benign not provided 2018-06-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Nilou-Genome Lab RCV001579180 SCV001806608 benign Bardet-Biedl syndrome 14 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001579181 SCV001806609 benign Joubert syndrome 5 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001579182 SCV001806610 benign Meckel syndrome, type 4 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001579183 SCV001806611 benign Senior-Loken syndrome 6 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000268851 SCV001452845 benign Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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