ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.2564del (p.Lys855fs)

dbSNP: rs397514331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000055613 SCV000083838 pathogenic Immunodeficiency, common variable, 1 no assertion criteria provided not provided Converted during submission to Pathogenic.
OMIM RCV000077760 SCV000109566 pathogenic Immunodeficiency, common variable, 10 2013-11-07 no assertion criteria provided literature only

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