ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.3160C>G (p.Pro1054Ala)

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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 RCV002465377 SCV002760039 likely pathogenic Mowat-Wilson syndrome 2022-11-29 criteria provided, single submitter research
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia RCV002465377 SCV004231879 likely pathogenic Mowat-Wilson syndrome 2023-10-20 criteria provided, single submitter clinical testing Heterozygous missense variant associated with Mowat-Wilson syndrome in at least 1 individual. ACMG/AMP criteria PS2, PM1, PM2, PP4

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