ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.3743G>A (p.Gly1248Asp) (rs72736758)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000624969 SCV000744331 likely benign Joubert syndrome 17 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000145359 SCV000516365 benign not specified 2016-03-22 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.
Genetic Services Laboratory, University of Chicago RCV000145359 SCV000192438 likely benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624969 SCV000743218 benign Joubert syndrome 17 2014-10-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323513 SCV000457405 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000544915 SCV000647809 benign Orofaciodigital syndrome 6; Joubert syndrome 17 2017-07-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000145359 SCV000314183 benign not specified criteria provided, single submitter clinical testing

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