ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val)

gnomAD frequency: 0.04935  dbSNP: rs6884652
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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 RCV000145377 SCV000314205 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000265751 SCV000457375 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 RCV000145377 SCV000516449 benign not specified 2016-05-09 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000528573 SCV000647822 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000528573 SCV005305083 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000145377 SCV000192456 likely benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000528573 SCV001798680 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000145377 SCV001973717 benign not specified no assertion criteria provided clinical testing

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