ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.375G>A (p.Thr125=)

gnomAD frequency: 0.00005  dbSNP: rs138389836
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126379 SCV000169883 benign not specified 2014-05-07 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 RCV000868409 SCV001009737 benign Mowat-Wilson syndrome 2023-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000868409 SCV002045711 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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