ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.26G>A (p.Gly9Asp)

gnomAD frequency: 0.00001  dbSNP: rs1242134764
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001201594 SCV001372670 benign Mowat-Wilson syndrome 2023-07-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509165 SCV001715726 uncertain significance not provided 2019-08-27 criteria provided, single submitter clinical testing
GeneDx RCV001509165 SCV001995578 uncertain significance not provided 2019-09-09 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001201594 SCV002045640 uncertain significance Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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