ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) (rs145520487)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724250 SCV000227961 uncertain significance not provided 2014-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000724250 SCV000978009 likely benign not provided 2018-04-11 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.
Illumina Clinical Services Laboratory,Illumina RCV000381777 SCV000457403 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000254359 SCV000314186 likely benign not specified criteria provided, single submitter clinical testing
UW Hindbrain Malformation Research Program,University of Washington RCV000201620 SCV000256329 likely pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research

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