ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.699T>C (p.Asn233=) (rs2039045)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000150506 SCV000168225 benign not specified 2014-03-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150506 SCV000197692 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Asn233Asn in exon 6 of DOCK8: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 25.2% (1110/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2039045).
PreventionGenetics,PreventionGenetics RCV000150506 SCV000317181 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314699 SCV000479554 benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing

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