ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.8124C>T (p.Asp2708=) (rs114126795)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625255 SCV000744322 benign Joubert syndrome 17 2017-06-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145382 SCV000332492 benign not specified 2015-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000145382 SCV000518607 benign not specified 2016-07-05 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 RCV000145382 SCV000192463 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301528 SCV000457353 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000646714 SCV000768493 benign Orofaciodigital syndrome 6; Joubert syndrome 17 2018-01-04 criteria provided, single submitter clinical testing

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