ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.388+20T>G

gnomAD frequency: 0.00132  dbSNP: rs141453528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519096 SCV001727902 benign Severe combined immunodeficiency due to IKK2 deficiency 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713011 SCV005265433 benign not provided criteria provided, single submitter not provided

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