ClinVar Miner

Submissions for variant NM_139239.3(NFKBID):c.773C>T (p.Pro258Leu)

gnomAD frequency: 0.00003  dbSNP: rs748957539
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267778 SCV001424096 uncertain significance Immunodeficiency, common variable, 12 2020-05-21 no assertion criteria provided clinical testing

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