ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)

gnomAD frequency: 0.00241  dbSNP: rs182369459
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176690 SCV000228387 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000192651 SCV000246991 uncertain significance not specified 2015-07-29 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000176690 SCV000280884 uncertain significance not provided 2016-01-18 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000176690 SCV000564860 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29970488, 25097241, 29398085)
Mayo Clinic Laboratories, Mayo Clinic RCV000660467 SCV000782562 uncertain significance Joubert syndrome 5 2017-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082205 SCV001001027 benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000176690 SCV001246571 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing CEP290: BS2
Illumina Laboratory Services, Illumina RCV001111528 SCV001269091 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). 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 Laboratory Services, Illumina RCV001111529 SCV001269092 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 Laboratory Services, Illumina RCV000660467 SCV001269093 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). 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 Laboratory Services, Illumina RCV001113514 SCV001271293 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). 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 Laboratory Services, Illumina RCV001113515 SCV001271294 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). 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.
PreventionGenetics, part of Exact Sciences RCV004528939 SCV000314543 likely benign CEP290-related disorder 2022-01-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001275025 SCV001459778 likely benign Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing

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