ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) (rs7970228)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000114190 SCV000147743 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 RCV000386730 SCV000381527 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289399 SCV000381528 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325683 SCV000381529 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389552 SCV000381530 likely benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295173 SCV000381531 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000476789 SCV000554519 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-07-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000114190 SCV000314538 benign not specified criteria provided, single submitter clinical testing

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