ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.130+7T>C

gnomAD frequency: 0.00047  dbSNP: rs200527262
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445279 SCV000534356 likely benign not specified 2016-12-01 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 RCV000861393 SCV001001693 likely benign Joubert syndrome 8 2024-01-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000445279 SCV003839937 likely benign not specified 2022-12-19 no assertion criteria provided clinical testing

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