ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.3208A>G (p.Asn1070Asp) (rs73382631)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000150511 SCV000168211 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 RCV000150511 SCV000197697 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Asn1070Asp in exon 26 of DOCK8: This variant is not expected to have clinical si gnificance because it has been identified in 10.6% (468/4404) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs73382631).
Illumina Clinical Services Laboratory,Illumina RCV000402840 SCV000480263 likely benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000525750 SCV000645695 benign Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2017-12-27 criteria provided, single submitter clinical testing

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