ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.1206del (p.Phe403fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Neurology, The Children’s Hospital, Zhejiang University School of Medicine RCV002472318 SCV002757069 likely pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities criteria provided, single submitter clinical testing

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