ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.5433G>A (p.Glu1811=) (rs1887957)

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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 RCV000155535 SCV000205234 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Glu1811Glu in exon 42 of DOCK8: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 39.9% (1756/4406) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1887957).
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust RCV000210054 SCV000257465 benign Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2015-08-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000155535 SCV000317178 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262385 SCV000480335 benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing

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