ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.6401T>C (p.Ile2134Thr) (rs117852025)

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Total submissions: 5
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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 RCV000224947 SCV000280784 likely benign not provided 2017-04-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152970 SCV000202409 likely benign not specified 2013-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000152970 SCV000512571 benign not specified 2016-03-02 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.
Genetic Services Laboratory, University of Chicago RCV000152970 SCV000594060 benign not specified 2016-06-07 criteria provided, single submitter clinical testing
Invitae RCV000206646 SCV000260366 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-05-17 criteria provided, single submitter clinical testing

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