ClinVar Miner

Submissions for variant NM_016123.4(IRAK4):c.1169A>G (p.His390Arg)

gnomAD frequency: 0.00109  dbSNP: rs4251583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000894648 SCV001038646 likely benign Immunodeficiency 67 2024-01-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705887 SCV005216696 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003950443 SCV004758210 likely benign IRAK4-related disorder 2023-11-03 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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