ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.544A>G (p.Lys182Glu)

gnomAD frequency: 0.01107  dbSNP: rs17878711
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514410 SCV000610139 likely benign not provided 2017-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083718 SCV000655053 benign Immunodeficiency 28 2024-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514410 SCV005206218 likely benign not provided criteria provided, single submitter not provided

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