ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.3214C>T (p.Gln1072Ter)

dbSNP: rs1703133912
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001171610 SCV001334408 pathogenic not provided 2019-10-15 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV002267631 SCV002549854 likely pathogenic Mowat-Wilson syndrome 2022-07-06 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1_STR, PS4_SUP, PM2_SUP

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