ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.404+16del (rs727505303)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare 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,PreventionGenetics RCV000156840 SCV000317174 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378054 SCV000479544 likely benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000529918 SCV000645704 benign Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2017-08-07 criteria provided, single submitter clinical testing

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