ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.1868+9A>G

dbSNP: rs370471790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003595808 SCV001680685 likely benign Autosomal recessive hyper-IgE syndrome 2023-10-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965961 SCV004782864 likely benign DOCK8-related disorder 2019-03-04 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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