ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.1962C>T (p.Val654=)

gnomAD frequency: 0.00221  dbSNP: rs201623844
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533760 SCV000654796 benign Immunodeficiency, common variable, 10 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000533760 SCV001477808 benign Immunodeficiency, common variable, 10 2023-11-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424141 SCV004127273 benign not provided 2022-09-01 criteria provided, single submitter clinical testing NFKB2: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003905446 SCV004727293 benign NFKB2-related condition 2019-08-28 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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