ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=)

gnomAD frequency: 0.00352  dbSNP: rs16903514
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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 RCV000145386 SCV000192472 benign not specified 2016-09-23 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000145386 SCV000230696 benign not specified 2014-08-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000145386 SCV000314217 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286512 SCV000457341 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.
GeneDx RCV000145386 SCV000516927 benign not specified 2016-11-29 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 RCV000543035 SCV000647829 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498660 SCV002799476 benign Orofaciodigital syndrome type 6; Joubert syndrome 17 2021-09-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000543035 SCV005305070 benign not provided criteria provided, single submitter not provided

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