ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.5211G>A (p.Glu1737=) (rs34098809)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124779 SCV000168218 benign not specified 2014-02-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000360398 SCV000480331 uncertain significance Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000560845 SCV000645709 benign Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000124779 SCV000967079 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Glu1737Glu in exon 40 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 2.5% (111/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs34098809).

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