ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.895-16T>C

gnomAD frequency: 0.66765  dbSNP: rs2296828
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254302 SCV000317182 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000254302 SCV000539015 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV005090275 SCV001718928 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511650 SCV001763413 benign Combined immunodeficiency due to DOCK8 deficiency 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001636843 SCV001849565 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000254302 SCV004102533 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 90% of patients studied by a panel of primary immunodeficiencies. Number of patients: 86. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001636843 SCV005270394 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000254302 SCV001744383 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000254302 SCV001930251 benign not specified no assertion criteria provided clinical testing

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