ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=)

gnomAD frequency: 0.01450  dbSNP: rs61745362
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000145354 SCV000314173 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000145354 SCV000336282 benign not specified 2015-10-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267006 SCV000457421 benign Joubert syndrome 17 2018-01-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000555634 SCV000647804 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000145354 SCV000719412 benign not specified 2017-05-11 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.
Breakthrough Genomics, Breakthrough Genomics RCV000555634 SCV005305104 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000145354 SCV000192433 likely benign not specified no assertion criteria provided clinical testing

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