ClinVar Miner

Submissions for variant NM_003998.4(NFKB1):c.830dup (p.Lys278fs) (rs1578790573)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788600 SCV000927767 likely pathogenic not provided 2018-06-29 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027602 SCV001190173 pathogenic Common variable immunodeficiency 2019-01-01 criteria provided, single submitter research

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