ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.289C>A (p.Pro97Thr) (rs529208)

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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 RCV000155526 SCV000205225 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro97Thr in exon 3 of DOCK8: This variant is not expected to have clinical signi ficance because it has been identified in 49.0% (4213/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs529208).
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust RCV000210057 SCV000257463 benign Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2015-08-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000155526 SCV000317172 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273069 SCV000479542 benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing

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