ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp)

gnomAD frequency: 0.00001  dbSNP: rs767506087
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000167558 SCV000515294 benign not provided 2021-04-23 criteria provided, single submitter clinical testing
Invitae RCV001478098 SCV001682356 likely benign Mowat-Wilson syndrome 2023-09-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001478098 SCV002045682 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000167558 SCV000218438 uncertain significance not provided 2015-01-30 no assertion criteria provided clinical testing

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