ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.3170G>A (p.Cys1057Tyr)

dbSNP: rs1135401790
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000496116 SCV000586745 pathogenic Mowat-Wilson syndrome 2017-01-06 criteria provided, single submitter clinical testing Intellectual disability; dysmorphism

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