ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.1707del (p.Gly570fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797147 SCV005418189 likely pathogenic Immunodeficiency 49; Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities criteria provided, single submitter clinical testing PVS1_Strong+PM2_Supporting+PM6_Supporting

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