ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.243C>T (p.Pro81=)

gnomAD frequency: 0.00001  dbSNP: rs1200946588
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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 RCV001396221 SCV001597948 likely benign Immunodeficiency 39 2023-08-30 criteria provided, single submitter clinical testing

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