ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2352T>C (p.Ser784=)

gnomAD frequency: 0.00002  dbSNP: rs201990887
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147996 SCV000195493 uncertain significance Mowat-Wilson syndrome 2014-05-06 criteria provided, single submitter clinical testing
GeneDx RCV000612236 SCV000724686 likely benign not specified 2017-11-14 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.
Invitae RCV000147996 SCV001691940 likely benign Mowat-Wilson syndrome 2023-06-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000147996 SCV002045588 likely benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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