ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2217+6A>G

gnomAD frequency: 0.00004  dbSNP: rs139027723
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421938 SCV000527023 likely benign not specified 2016-04-29 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 RCV001470976 SCV001675076 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2025-01-01 criteria provided, single submitter clinical testing

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