ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.2239C>T (p.Leu747=)

gnomAD frequency: 0.01026  dbSNP: rs11191279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535114 SCV000654799 benign Immunodeficiency, common variable, 10 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000535114 SCV001473669 benign Immunodeficiency, common variable, 10 2023-11-01 criteria provided, single submitter clinical testing

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