ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.853-12_853-11insG (rs71082425)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152981 SCV000202422 benign not specified 2015-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000152981 SCV000714545 benign not specified 2018-03-18 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 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
PreventionGenetics RCV000152981 SCV000314576 benign not specified criteria provided, single submitter clinical testing

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