ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.5001C>T (p.His1667=) (rs35662752)

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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 RCV000150516 SCV000197702 benign not specified 2013-02-21 criteria provided, single submitter clinical testing His1667His in exon 39 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 3.5% (153/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs35662752).
Illumina Clinical Services Laboratory,Illumina RCV000359394 SCV000480328 likely benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000150516 SCV000512851 benign not specified 2015-03-18 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.
Invitae RCV000559639 SCV000645706 benign Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2018-01-02 criteria provided, single submitter clinical testing

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