ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.2295C>T (p.Ser765=) (rs12348944)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124767 SCV000168206 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 RCV000124767 SCV000269031 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ser765Ser in exon 20 of DOCK8: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 7.6% (335/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs12348944).
Illumina Clinical Services Laboratory,Illumina RCV000371959 SCV000480148 likely benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000560189 SCV000645686 benign Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2017-07-27 criteria provided, single submitter clinical testing

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