ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1578_1579delinsA (p.Asp527fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia RCV003484254 SCV004231880 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, PP4

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