ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.332+9T>G

gnomAD frequency: 0.00145  dbSNP: rs113744378
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439358 SCV000518947 likely benign not specified 2016-09-26 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 RCV003761984 SCV001121592 benign Autosomal recessive hyper-IgE syndrome 2023-11-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000439358 SCV002068039 likely benign not specified 2021-06-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932587 SCV004752601 likely benign DOCK8-related disorder 2019-07-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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