ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.3840+3A>G (rs16938572)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513764 SCV000609608 likely benign not provided 2017-02-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377711 SCV000480297 likely benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000553638 SCV000645703 benign Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2017-12-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213640 SCV000269032 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 3840+3A>G in intron 30 of DOCK8: This variant is not expected to have clinical s ignificance because it has been identified in 2.7% (119/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs16938572).

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