ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.6427A>G (p.Ile2143Val) (rs6884652)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000145377 SCV000314205 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265751 SCV000457375 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000145377 SCV000516449 benign not specified 2016-05-09 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.
Invitae RCV000528573 SCV000647822 benign Orofaciodigital syndrome 6; Joubert syndrome 17 2017-08-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145377 SCV000192456 likely benign not specified no assertion criteria provided clinical testing

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