ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.2206-48A>G

gnomAD frequency: 0.53910  dbSNP: rs7020921
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544387 SCV001763415 benign Combined immunodeficiency due to DOCK8 deficiency 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001685496 SCV001900083 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399355 SCV004102624 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 85% of patients studied by a panel of primary immunodeficiencies. Number of patients: 82. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001685496 SCV005270420 benign not provided criteria provided, single submitter not provided

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