ClinVar Miner

Submissions for variant NM_002163.4(IRF8):c.1104+40del

dbSNP: rs10604224
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002127330 SCV002403280 benign Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 2024-01-02 criteria provided, single submitter clinical testing

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