ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) (rs11104729)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514061 SCV000610378 likely benign not provided 2017-04-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000246283 SCV000337473 benign not specified 2015-11-09 criteria provided, single submitter clinical testing
GeneDx RCV000246283 SCV000526057 likely benign not specified 2016-10-06 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 RCV000342377 SCV000381366 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402056 SCV000381367 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297940 SCV000381368 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338834 SCV000381369 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391752 SCV000381370 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000552734 SCV000634660 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-06-30 criteria provided, single submitter clinical testing
PreventionGenetics RCV000246283 SCV000314562 likely benign not specified criteria provided, single submitter clinical testing

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