ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.528T>C (p.Ala176=)

gnomAD frequency: 0.00001  dbSNP: rs762907049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001464908 SCV001668885 likely benign Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2024-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278471 SCV001465485 uncertain significance Histiocytic medullary reticulosis 2020-04-13 no assertion criteria provided clinical testing

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