ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.4102G>A (p.Asp1368Asn) (rs184143186)

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Total submissions: 4
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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 RCV000177662 SCV000280622 uncertain significance not provided 2015-06-12 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177662 SCV000229564 uncertain significance not provided 2017-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000259131 SCV000518769 likely benign not specified 2016-10-27 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.
Invitae RCV000526870 SCV000634655 likely benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-07-28 criteria provided, single submitter clinical testing

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