ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.528T>C (p.Tyr176=)

gnomAD frequency: 0.00001  dbSNP: rs121913210
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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 RCV001406052 SCV001608000 likely benign Immunodeficiency 28 2018-10-30 criteria provided, single submitter clinical testing
Human Evolutionary Genetics, Institut Pasteur RCV000097450 SCV000121664 not provided not provided no assertion provided not provided

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