ClinVar Miner

Submissions for variant NM_003998.4(NFKB1):c.927+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577121 SCV005060962 likely pathogenic Immunodeficiency, common variable, 12 criteria provided, single submitter clinical testing The splice site c.927+2T>C variant in the NFKB1 gene has not been reported previously as a pathogenic variant nor as a benign

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