ClinVar Miner

Submissions for variant NM_003998.4(NFKB1):c.1004G>A (p.Arg335Gln)

gnomAD frequency: 0.00015  dbSNP: rs143817570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518223 SCV001726880 benign not provided 2023-10-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132512 SCV003815892 uncertain significance Immunodeficiency, common variable, 12 2021-03-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001518223 SCV004153027 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing

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