ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.5199A>G (p.Gln1733=) (rs79644671)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124248 SCV000167675 benign not specified 2014-03-21 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 RCV000267777 SCV000381396 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322977 SCV000381397 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354431 SCV000381398 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259368 SCV000381399 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319253 SCV000381400 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000472139 SCV000554521 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-12-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124248 SCV000314558 benign not specified criteria provided, single submitter clinical testing

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