ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.3118C>T (p.His1040Tyr)

dbSNP: rs1553960788
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Total submissions: 1
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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 RCV000590869 SCV000700173 likely pathogenic Mowat-Wilson syndrome 2016-10-13 criteria provided, single submitter clinical testing

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