ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) (rs149313666)

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Total submissions: 8
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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 RCV000430074 SCV000511346 likely benign not provided 2017-01-31 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000248133 SCV000338569 benign not specified 2016-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000248133 SCV000729000 benign not specified 2017-08-11 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 RCV000145369 SCV000192448 uncertain significance Joubert syndrome 17 2014-06-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000145369 SCV000743217 benign Joubert syndrome 17 2014-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347153 SCV000457385 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547654 SCV000647818 benign Orofaciodigital syndrome 6; Joubert syndrome 17 2017-07-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000248133 SCV000314199 likely benign not specified criteria provided, single submitter clinical testing

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