ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2855G>C (p.Arg952Thr)

gnomAD frequency: 0.00006  dbSNP: rs151256895
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608562 SCV000714324 likely benign not specified 2017-12-04 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 RCV000692985 SCV000820837 likely benign Mowat-Wilson syndrome 2023-12-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714222 SCV000844916 uncertain significance not provided 2017-09-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000692985 SCV002045582 uncertain significance Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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