ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met)

gnomAD frequency: 0.00213  dbSNP: rs146250176
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705568 SCV000512847 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Invitae RCV003761974 SCV000645684 benign Autosomal recessive hyper-IgE syndrome 2024-01-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV000530757 SCV001527702 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2018-08-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genetic Services Laboratory, University of Chicago RCV001821159 SCV002072294 benign not specified 2021-04-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970112 SCV004777123 likely benign DOCK8-related disorder 2022-05-27 criteria provided, single submitter 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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