ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.3058A>G (p.Ile1020Val) (rs151094543)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202995 SCV000258288 benign not specified 2015-07-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295304 SCV000480258 uncertain significance Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000202995 SCV000532250 likely benign not specified 2016-09-27 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 RCV000645157 SCV000766899 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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