ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.5010G>A (p.Ala1670=)

gnomAD frequency: 0.00128  dbSNP: rs142208336
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003596106 SCV000766919 benign Autosomal recessive hyper-IgE syndrome 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816602 SCV002068796 benign not specified 2021-03-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424223 SCV004161725 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing DOCK8: BP4, BP7

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