ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.167T>C (p.Leu56Pro)

gnomAD frequency: 0.00003  dbSNP: rs61750440
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001351443 SCV001545914 benign Mowat-Wilson syndrome 2023-10-03 criteria provided, single submitter clinical testing
GeneDx RCV001799761 SCV002044032 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533, 29168297)
CeGaT Center for Human Genetics Tuebingen RCV001799761 SCV004151271 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing ZEB2: PP2, BP4

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