ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1533C>T (p.Val511=)

gnomAD frequency: 0.00003  dbSNP: rs587780994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126364 SCV000169867 benign not specified 2014-04-03 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001455455 SCV001659215 likely benign Mowat-Wilson syndrome 2024-08-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001455455 SCV002045688 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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