ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.800del (p.Phe267fs)

dbSNP: rs2123370265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001728186 SCV004808029 likely pathogenic Immunodeficiency 28 2024-03-29 criteria provided, single submitter clinical testing
OMIM RCV001728186 SCV001976647 pathogenic Immunodeficiency 28 2021-10-08 no assertion criteria provided literature only

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