ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.908del (p.Pro303fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV005087551 SCV005725413 likely pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 2024-08-22 criteria provided, single submitter clinical testing

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