ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.593-18_593-17insTG

dbSNP: rs776927209
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481801 SCV000565671 benign not specified 2015-07-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197751 SCV001368530 benign Mowat-Wilson syndrome 2019-03-08 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001197751 SCV002396053 likely benign Mowat-Wilson syndrome 2024-12-30 criteria provided, single submitter clinical testing

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