ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.51C>T (p.Ala17=)

gnomAD frequency: 0.00002  dbSNP: rs1450348387
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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 RCV000926558 SCV001072121 likely benign Immunodeficiency 28 2024-01-02 criteria provided, single submitter clinical testing

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