ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.828-7A>G

gnomAD frequency: 0.00030  dbSNP: rs200243583
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336278 SCV000479595 uncertain significance Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003595941 SCV001045037 benign Autosomal recessive hyper-IgE syndrome 2024-01-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821121 SCV002072293 likely benign not specified 2021-04-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430969 SCV004161702 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing DOCK8: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003957869 SCV004772445 likely benign DOCK8-related disorder 2019-08-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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