ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.2916C>A (p.Thr972=)

dbSNP: rs2297075
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003595777 SCV001614268 likely benign Autosomal recessive hyper-IgE syndrome 2023-04-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003458041 SCV004184766 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing DOCK8: BP4, BP7

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