ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.709G>A (p.Glu237Lys) (rs11789099)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150507 SCV000197693 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Glu237Lys in exon 6 of DOCK8: This variant is not expected to have clinical sign ificance because it has been identified in 3.3% (283/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs11789099).
Illumina Clinical Services Laboratory,Illumina RCV000350898 SCV000479555 likely benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000524882 SCV000645715 benign Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2017-08-07 criteria provided, single submitter clinical testing

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