Submissions for variant NM_203447.4(DOCK8):c.404+16del

dbSNP: rs727505303

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156840	SCV000206561	benign	not specified	2015-09-02	criteria provided, single submitter	clinical testing	c.404+16delT in intron 4 of DOCK8: This variant is not expected to have clinical significance because it has been identified in 3.64% (2389/65588) of European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs202087573).
PreventionGenetics, part of Exact Sciences	RCV000156840	SCV000317174	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000378054	SCV000479544	likely benign	Hyper-IgE syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV003761800	SCV000645704	benign	Autosomal recessive hyper-IgE syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001640194	SCV001858313	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000156840	SCV001809680	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000156840	SCV001929347	benign	not specified		no assertion criteria provided	clinical testing