ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser)

gnomAD frequency: 0.00125  dbSNP: rs202001697
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001000080 SCV000654792 likely benign Immunodeficiency, common variable, 10 2024-01-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000080 SCV000884255 likely benign Immunodeficiency, common variable, 10 2018-09-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424140 SCV004127270 benign not provided 2024-01-01 criteria provided, single submitter clinical testing NFKB2: BS1, BS2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493641 SCV004243387 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952857 SCV004767168 likely benign NFKB2-related disorder 2022-02-17 no assertion criteria provided 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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