ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.945C>T (p.Asp315=)

gnomAD frequency: 0.00002  dbSNP: rs1802585
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171962 SCV001334879 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001486670 SCV001691136 likely benign Immunodeficiency 28 2023-12-11 criteria provided, single submitter clinical testing

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