ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.208-5A>G

gnomAD frequency: 0.00453  dbSNP: rs11765434
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000285891 SCV000338224 benign not specified 2016-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000650031 SCV000466829 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000650031 SCV000771868 benign Joubert syndrome 15 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200190 SCV001371087 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CEP41: BP4, BS2
GeneDx RCV001200190 SCV001894186 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001200190 SCV001918455 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000285891 SCV001928879 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001200190 SCV001971439 likely benign not provided no assertion criteria provided clinical testing

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