ClinVar Miner

Submissions for variant NM_003998.4(NFKB1):c.1519A>G (p.Met507Val)

gnomAD frequency: 0.01884  dbSNP: rs4648072
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514841 SCV000609739 likely benign not provided 2017-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514841 SCV001102984 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001284835 SCV001470910 benign Immunodeficiency, common variable, 12 2023-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001284835 SCV002804220 likely benign Immunodeficiency, common variable, 12 2022-05-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514841 SCV005260259 likely benign not provided criteria provided, single submitter not provided

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