ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.8796+4A>C (rs199810663)

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Total submissions: 6
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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 RCV000428354 SCV000510828 uncertain significance not provided 2016-09-15 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000428354 SCV000230723 uncertain significance not provided 2015-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000247706 SCV000512437 likely benign not specified 2017-03-31 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 RCV000247706 SCV000593805 uncertain significance not specified 2015-11-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321409 SCV000457339 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000247706 SCV000314219 likely benign not specified criteria provided, single submitter clinical testing

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