ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.2971-14A>G (rs140114637)

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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 RCV000281923 SCV000480255 likely benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825669 SCV000967077 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 2971-14A>G in intron 24 of DOCK8: This variant is not expected to have clinical significance because it has been identified in 2.9% (128/4406) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs140114637).

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