ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.1582del (p.His528fs)

dbSNP: rs2139757991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003333164 SCV001748913 likely pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 2021-06-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333164 SCV004041111 likely pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 2023-02-02 criteria provided, single submitter clinical testing

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