ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.2114+3A>G

gnomAD frequency: 0.00003  dbSNP: rs56329631
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001069576 SCV001234753 likely benign Severe combined immunodeficiency due to IKK2 deficiency 2024-01-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155352 SCV003844498 uncertain significance not specified 2023-02-10 criteria provided, single submitter clinical testing

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