ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.952G>A (p.Ala318Thr) (rs35482838)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000223977 SCV000280633 benign not provided 2015-06-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392215 SCV000479596 likely benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000550077 SCV000645717 benign Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2017-12-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825668 SCV000967076 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala318Thr in exon 9 of DOCK8: This variant is not expected to have clinical sign ificance because it has been identified in 7.3% (320/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs35482838).

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