ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.1824T>A (p.Pro608=)

gnomAD frequency: 0.00009  dbSNP: rs749361649
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003596670 SCV001049225 likely benign Autosomal recessive hyper-IgE syndrome 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432894 SCV004161706 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing DOCK8: BP4, BP7

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