ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.2114+12T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003583403 SCV004268747 likely benign Severe combined immunodeficiency due to IKK2 deficiency 2023-06-14 criteria provided, single submitter clinical testing

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