ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.5223+65G>C

gnomAD frequency: 0.57714  dbSNP: rs10758598
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001534623 SCV001751553 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544028 SCV001762996 benign Combined immunodeficiency due to DOCK8 deficiency 2021-07-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003394117 SCV004101838 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 84% of patients studied by a panel of primary immunodeficiencies. Number of patients: 81. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001534623 SCV005272423 benign not provided criteria provided, single submitter not provided

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