ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.923dup (p.Asn308fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990034 SCV004806253 likely pathogenic Severe combined immunodeficiency due to IKK2 deficiency 2024-03-25 criteria provided, single submitter clinical testing

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