ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.5961+133A>G

gnomAD frequency: 0.83292  dbSNP: rs10121936
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544169 SCV001763157 benign Combined immunodeficiency due to DOCK8 deficiency 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001658274 SCV001881394 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658274 SCV005272435 benign not provided criteria provided, single submitter not provided

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