ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.3574-9delT (rs10717563)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082247 SCV000114196 benign not specified 2013-11-20 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.
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
Invitae RCV000196108 SCV000252869 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-01-23 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082247 SCV000314547 benign not specified criteria provided, single submitter clinical testing

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