ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2357dup (p.Leu786fs)

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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 Medical Genetics, University of Torino RCV002465387 SCV002760053 pathogenic Mowat-Wilson syndrome 2022-11-29 criteria provided, single submitter research
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia RCV002465387 SCV004231881 pathogenic Mowat-Wilson syndrome 2023-10-20 criteria provided, single submitter clinical testing Heterozygous variant associated with Mowat-Wilson syndrome in at least 1 individual. ACMG/AMP criteria PVS1, PS2, PM2

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