ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.3595G>A (p.Asp1199Asn)

dbSNP: rs2055912945
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196935 SCV001367569 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2020-03-19 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3.

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