ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.1079G>A (p.Arg360Gln) (rs188164241)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000658663 SCV000602964 likely benign not provided 2017-05-05 criteria provided, single submitter clinical testing The CEP290 c.1079G>A;p.Arg360Gln variant has not been listed in the medical literature or in gene-specific databases. The variant is listed in the ClinVar database (Variation ID: 166838) and the dbSNP variant database (rs188164241) with an allele frequency of 0.3471 percent (39/11197 alleles) in the Exome Variant Server and 0.5192 percent (575/110744 alleles) in the Genome Aggregation Database. The amino acid at this position is moderately conserved across species but computational algorithms do not reach a consensus as to the effect of this variant (SIFT: Tolerated, PolyPhen2: Probably Damaging, Align GVGD: C0). Considering all available information, this variant is classified as likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658663 SCV000780446 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152980 SCV000202421 likely benign not specified 2015-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000152980 SCV000512568 likely benign not specified 2017-11-06 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.
Invitae RCV000195643 SCV000253610 likely benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-12-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152980 SCV000314512 likely benign not specified criteria provided, single submitter clinical testing

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