ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.8182C>A (p.Pro2728Thr) (rs77014998)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145383 SCV000192466 likely benign not specified 2014-04-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000145383 SCV000314213 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000624968 SCV000457352 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.
Invitae RCV000555099 SCV000647827 benign Orofaciodigital syndrome type 6; Joubert syndrome 17 2019-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000145383 SCV000729105 likely benign not specified 2018-01-08 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 RCV000624968 SCV000743216 benign Joubert syndrome 17 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000624968 SCV000744321 likely benign Joubert syndrome 17 2015-09-21 criteria provided, single submitter clinical testing

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