ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.957G>A (p.Thr319=)

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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 RCV003060165 SCV003448123 likely benign Severe combined immunodeficiency due to IKK2 deficiency 2023-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003973635 SCV004795448 likely benign IKBKB-related disorder 2019-02-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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