ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys)

gnomAD frequency: 0.17594  dbSNP: rs10076911
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000145376 SCV000314204 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000602270 SCV000457377 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000145376 SCV000516483 benign not specified 2016-03-14 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000602270 SCV000744324 benign Joubert syndrome 17 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522078 SCV001731547 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522078 SCV005305084 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000145376 SCV000192455 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000602270 SCV000734408 benign Joubert syndrome 17 no assertion criteria provided clinical testing

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