ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.3466+8G>C

gnomAD frequency: 0.25704  dbSNP: rs2306187
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081686 SCV000113617 benign not specified 2013-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000081686 SCV000167663 benign not specified 2013-12-18 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.
Genetic Services Laboratory, University of Chicago RCV000081686 SCV000192727 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000081686 SCV000312284 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281663 SCV000392856 benign Seckel syndrome 5 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.
Illumina Laboratory Services, Illumina RCV000339078 SCV000392857 benign Microcephaly 9, primary, autosomal recessive 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.
Genome-Nilou Lab RCV000339078 SCV001806622 benign Microcephaly 9, primary, autosomal recessive 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000281663 SCV001806623 benign Seckel syndrome 5 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV002055209 SCV002406569 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081686 SCV001951948 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000081686 SCV001969462 benign not specified no assertion criteria provided clinical testing

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