ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.528+7C>A

gnomAD frequency: 0.00207  dbSNP: rs114833839
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437668 SCV000512844 benign not specified 2015-06-25 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 RCV003761971 SCV000645710 benign Autosomal recessive hyper-IgE syndrome 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000437668 SCV003839441 likely benign not specified 2022-10-06 no assertion criteria provided clinical testing

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