ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) (rs79705698)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000114185 SCV000167668 benign not specified 2014-04-15 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.
Genetic Services Laboratory, University of Chicago RCV000114185 SCV000147737 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000372667 SCV000381567 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259217 SCV000381568 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323871 SCV000381569 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378429 SCV000381570 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284065 SCV000381571 likely benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000462329 SCV000554520 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-08-09 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086981 SCV000119234 not provided not provided no assertion provided not provided
PreventionGenetics RCV000114185 SCV000314520 benign not specified criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000677319 SCV000803502 benign Joubert syndrome 5 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone, for Joubert syndrome 5, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. BS4 => Lack of segregation in affected members of a family (PMID:17564967).

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