ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.5310C>G (p.Leu1770=)

gnomAD frequency: 0.00001  dbSNP: rs1347537082
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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 RCV003597344 SCV002386531 likely benign Autosomal recessive hyper-IgE syndrome 2023-02-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003911341 SCV004725101 likely benign DOCK8-related disorder 2024-01-08 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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