ClinVar Miner

Submissions for variant NM_002163.4(IRF8):c.554-6C>T

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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 RCV002866183 SCV003226423 likely benign Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 2022-06-14 criteria provided, single submitter clinical testing

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