ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) (rs117122459)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000114197 SCV000314550 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262200 SCV000381462 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320156 SCV000381463 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386413 SCV000381464 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294467 SCV000381465 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333043 SCV000381466 likely benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000477366 SCV000554516 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000114197 SCV000147750 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.

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