ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.4024-4C>T (rs111306749)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000283160 SCV000480298 uncertain significance Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000601801 SCV000711312 benign not specified 2017-03-06 criteria provided, single submitter clinical testing c.4024-4C>T in intron 31 of DOCK8: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1.3% (88/6614) of European (Finnish) chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1113 06749).
GeneDx RCV000601801 SCV000731055 likely benign not specified 2017-05-19 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.
Invitae RCV000905669 SCV001050261 benign not provided 2019-02-05 criteria provided, single submitter clinical testing

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