ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.187G>A (p.Asp63Asn) (rs3209441)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000150505 SCV000168224 benign not specified 2014-03-11 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 RCV000150505 SCV000197691 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Asp63Asn in exon 3 of DOCK8: This variant is not expected to have clinical signi ficance because it has been identified in 17.6% (1513/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://; dbSNP rs3209441).
PreventionGenetics,PreventionGenetics RCV000150505 SCV000317170 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276708 SCV000479539 likely benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing

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