ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.3230G>A (p.Ser1077Asn) (rs34627722)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000150512 SCV000168212 benign not specified 2014-03-20 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150512 SCV000197698 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ser1077Asn in exon 26 of DOCK8: This variant is not expected to have clinical si gnificance because it has been identified in 10.7% (473/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs34627722).
Illumina Clinical Services Laboratory,Illumina RCV000364257 SCV000480265 likely benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000538192 SCV000645696 benign Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2017-08-11 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.