ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.-5A>C

gnomAD frequency: 0.39010  dbSNP: rs2287371
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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 RCV000248227 SCV000313263 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000384968 SCV000466832 benign Joubert syndrome 15 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 RCV000384968 SCV001806222 benign Joubert syndrome 15 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001610701 SCV001840216 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610701 SCV005269955 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000248227 SCV001740027 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000248227 SCV001966280 benign not specified no assertion criteria provided clinical testing

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