ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1848T>G (p.Pro616=)

gnomAD frequency: 0.00014  dbSNP: rs144835963
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000157719 SCV000113589 likely benign not specified 2015-06-16 criteria provided, single submitter clinical testing
GeneDx RCV000157719 SCV000169870 benign not specified 2014-03-13 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 RCV000865330 SCV001006276 likely benign Mowat-Wilson syndrome 2025-01-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000865330 SCV002045683 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002510781 SCV002822688 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing ZEB2: BP4, BP7

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