ClinVar Miner

Submissions for variant NM_022893.4(BCL11A):c.385+2T>C (rs1553352926)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623290 SCV000742631 pathogenic Inborn genetic diseases 2017-10-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000825006 SCV000966198 pathogenic Intellectual developmental disorder with persistence of fetal hemoglobin 2018-06-26 criteria provided, single submitter clinical testing

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