ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.3565A>G (p.Ile1189Val) (rs77399114)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124776 SCV000168215 benign not specified 2014-03-21 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224213 SCV000280717 benign not provided 2015-06-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326570 SCV000480293 likely benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000224213 SCV000645700 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000124776 SCV000967078 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ile1189Val in exon 29 of DOCK8: This variant is not expected to have clinical si gnificance because it has been identified in 6.9% (302/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs77399114).

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