ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.879+19del

gnomAD frequency: 0.00070  dbSNP: rs193922682
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Total submissions: 3
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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 RCV000030046 SCV000052701 uncertain Interferon gamma receptor deficiency 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Invitae RCV001513038 SCV001720571 benign Immunodeficiency 28 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001689575 SCV001906940 benign not provided 2021-06-19 criteria provided, single submitter clinical testing

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