ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.-113C>T

dbSNP: rs2236547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000306874 SCV000484363 benign Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000833524 SCV000975288 benign not provided 2018-06-14 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.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003392222 SCV004102041 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 57% of patients studied by a panel of primary immunodeficiencies. Number of patients: 55. Only high quality variants are reported.

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