ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.6138C>G (p.Leu2046=)

gnomAD frequency: 0.00011  dbSNP: rs139515839
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432400 SCV000523446 likely benign not specified 2016-02-05 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 RCV003761990 SCV001668659 likely benign Autosomal recessive hyper-IgE syndrome 2023-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912682 SCV004728892 likely benign DOCK8-related disorder 2024-08-15 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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