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
Genetic Services Laboratory,University of Chicago RCV000145369 SCV000192448 uncertain significance Joubert syndrome 17 2014-06-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000248133 SCV000314199 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000248133 SCV000338569 benign not specified 2016-01-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000145369 SCV000457385 likely benign Joubert syndrome 17 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
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.
Invitae RCV001081623 SCV000647818 benign Orofaciodigital syndrome type 6; Joubert syndrome 17 2019-12-31 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000145369 SCV000743217 benign Joubert syndrome 17 2014-10-10 criteria provided, single submitter clinical testing

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