ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.921G>A (p.Leu307=)

gnomAD frequency: 0.00064  dbSNP: rs146926941
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651944 SCV000773801 benign Immunodeficiency, common variable, 10 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703225 SCV001961245 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing NFKB2: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000651944 SCV004562055 benign Immunodeficiency, common variable, 10 2023-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703225 SCV001929015 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001703225 SCV001974200 likely benign not provided no assertion criteria provided clinical testing

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