ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) (rs183655276)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082249 SCV000114198 likely benign not specified 2015-03-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082249 SCV000246994 uncertain significance not specified 2014-05-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082249 SCV000314551 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351974 SCV000381452 likely benign Joubert syndrome 5 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000402012 SCV000381453 uncertain significance Meckel syndrome, type 4 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000307654 SCV000381454 uncertain significance Leber congenital amaurosis 10 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000366483 SCV000381455 likely benign Senior-Loken syndrome 6 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000408211 SCV000381456 likely benign Bardet-Biedl syndrome 14 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000442189 SCV000511628 likely benign not provided 2016-09-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001082252 SCV000554515 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000442189 SCV000566049 likely benign not provided 2020-01-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28127548, 27166760)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000442189 SCV000780444 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000408211 SCV001781512 uncertain significance Bardet-Biedl syndrome 14 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000351974 SCV001781513 uncertain significance Joubert syndrome 5 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000402012 SCV001781514 uncertain significance Meckel syndrome, type 4 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000366483 SCV001781515 uncertain significance Senior-Loken syndrome 6 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273070 SCV001455657 likely benign Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing

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