ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.528+13A>G (rs116483820)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000279801 SCV000479548 likely benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000603982 SCV000711309 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 528+13A>G in intron 5 of DOCK8: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 3.7% (163/4406) of African American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS; dbSNP rs116483820).

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