ClinVar Miner

Submissions for variant NM_022893.4(BCL11A):c.193G>T (p.Glu65Ter) (rs1553353022)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000677683 SCV000803826 likely pathogenic Intellectual developmental disorder with persistence of fetal hemoglobin 2016-01-13 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000850480 SCV000992678 likely pathogenic Marfanoid habitus and intellectual disability criteria provided, single submitter research

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