ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.2067G>A (p.Lys689=)

gnomAD frequency: 0.00006  dbSNP: rs745876650
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607909 SCV000717744 likely benign not specified 2017-04-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001053920 SCV001218206 likely benign Immunodeficiency, common variable, 10 2023-12-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953027 SCV004773255 likely benign NFKB2-related condition 2020-02-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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