ClinVar Miner

Submissions for variant NM_002163.4(IRF8):c.238A>G (p.Thr80Ala)

dbSNP: rs397514711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV000050230 SCV005901944 likely pathogenic Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 2024-11-18 criteria provided, single submitter clinical testing PS2, PS4_SUP, PM2_SUP, PP3
OMIM RCV000050230 SCV000082809 pathogenic Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 2011-07-14 no assertion criteria provided literature only

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