ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) (rs77778467)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193732 SCV000246998 likely benign not specified 2019-03-15 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490488 SCV000267248 uncertain significance Leber congenital amaurosis 10 2016-03-18 criteria provided, single submitter reference population
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000132681 SCV000609629 uncertain significance not provided 2017-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000193732 SCV000730551 likely benign not specified 2017-08-31 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000132681 SCV000857575 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing
Invitae RCV001083794 SCV001007353 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000988879 SCV001138777 benign Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001109949 SCV001267333 uncertain significance Senior-Loken syndrome 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001109950 SCV001267334 uncertain significance Bardet-Biedl syndrome 14 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000490488 SCV001268204 uncertain significance Leber congenital amaurosis 10 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001110731 SCV001268205 uncertain significance Meckel syndrome, type 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001110732 SCV001268206 uncertain significance Joubert syndrome 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132681 SCV000172634 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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