ClinVar Miner

Submissions for variant NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs)

dbSNP: rs1558612412
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dobyns Lab, Seattle Children's Research Institute RCV000779632 SCV000916309 pathogenic Dias-Logan syndrome 2019-02-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001257951 SCV001434764 likely pathogenic Congenital cerebellar hypoplasia no assertion criteria provided research

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