ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.467G>A (p.Arg156His)

gnomAD frequency: 0.00001  dbSNP: rs1250217464
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642258 SCV000763918 benign Mowat-Wilson syndrome 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437358 SCV004151268 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing ZEB2: PM2, BP4

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