ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.829G>C (p.Glu277Gln) (rs45502896)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132682 SCV000172635 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000114209 SCV000225078 benign not specified 2014-12-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000114209 SCV000147762 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.
Invitae RCV000463938 SCV000554523 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-08-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000114209 SCV000314575 benign not specified criteria provided, single submitter clinical testing

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