ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.1702A>C (p.Arg568=)

gnomAD frequency: 0.00185  dbSNP: rs151057347
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532457 SCV000654810 benign Severe combined immunodeficiency due to IKK2 deficiency 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091601 SCV001247735 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing IKBKB: BP4
Breakthrough Genomics, Breakthrough Genomics RCV001091601 SCV005223477 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001091601 SCV001929360 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001091601 SCV001972967 likely benign not provided no assertion criteria provided clinical testing

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