ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.81+20= (rs6876576)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000145381 SCV000314212 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000145381 SCV000516208 benign not specified 2016-01-08 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000601886 SCV000744333 benign Joubert syndrome 17 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV001517678 SCV001726226 benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000601886 SCV001775894 benign Joubert syndrome 17 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001554628 SCV001775895 benign Orofaciodigital syndrome type 6 2021-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000145381 SCV000192462 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601886 SCV000734411 benign Joubert syndrome 17 no assertion criteria provided clinical testing

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