ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1056G>A (p.Glu352=) (rs12145904)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212977 SCV000171376 benign not specified 2011-08-11 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.
Illumina Clinical Services Laboratory,Illumina RCV000395443 SCV000358874 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299398 SCV000358875 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000212977 SCV000303623 benign not specified criteria provided, single submitter clinical testing
Retina International RCV000085144 SCV000117281 not provided not provided no assertion provided not provided

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