ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.173C>G (p.Thr58Arg)

gnomAD frequency: 0.04587  dbSNP: rs4986958
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030045 SCV000052700 benign Interferon gamma receptor deficiency 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000528693 SCV000655050 benign Immunodeficiency 28 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001610298 SCV001838382 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610298 SCV005307735 benign not provided criteria provided, single submitter not provided

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