ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.4107C>G (p.Leu1369=) (rs2297079)

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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 RCV000155533 SCV000205232 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu1369Leu in exon 32 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 38.7% (3325/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2297079).
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust RCV000210048 SCV000257464 benign Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2015-08-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000155533 SCV000317175 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342888 SCV000480299 benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing

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