Submissions for variant NM_203447.4(DOCK8):c.3234+15del

dbSNP: rs375864618

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000306049	SCV000480267	likely benign	Hyper-IgE syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV003761957	SCV001727200	benign	Autosomal recessive hyper-IgE syndrome	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001701002	SCV002575556	likely benign	not provided	2022-01-21	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
GeneDx	RCV000484654	SCV000567959	likely benign	not specified	2017-07-11	flagged submission	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701002	SCV001926447	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701002	SCV001967326	likely benign	not provided		no assertion criteria provided	clinical testing