ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1455A>G (p.Glu485=)

gnomAD frequency: 0.00001  dbSNP: rs755893750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602144 SCV000723617 likely benign not specified 2017-10-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000928531 SCV001074142 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-21 criteria provided, single submitter clinical testing

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