ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.2310G>A (p.Glu770=)

gnomAD frequency: 0.00217  dbSNP: rs116175117
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003596035 SCV000645687 benign Autosomal recessive hyper-IgE syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001675924 SCV001892423 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001675924 SCV004699034 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing DOCK8: BP4, BP7
Genetic Services Laboratory, University of Chicago RCV003151096 SCV003839439 likely benign not specified 2022-11-28 no assertion criteria provided clinical testing

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