ClinVar Miner

Submissions for variant NM_002163.4(IRF8):c.370G>A (p.Val124Met)

gnomAD frequency: 0.00185  dbSNP: rs138854374
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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 RCV000652536 SCV000774406 likely benign Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 2023-12-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704173 SCV005212198 likely benign not provided criteria provided, single submitter not provided

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