ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) (rs61941020)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000436165 SCV000511607 likely benign not provided 2016-10-25 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000114201 SCV000337989 benign not specified 2015-12-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000114201 SCV000147754 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 RCV000336982 SCV000381386 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399104 SCV000381387 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292636 SCV000381388 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352237 SCV000381389 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407985 SCV000381390 likely benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230169 SCV000290915 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-07-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000114201 SCV000314560 likely benign not specified criteria provided, single submitter clinical testing

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