ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.403+18C>T

gnomAD frequency: 0.00305  dbSNP: rs116404871
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169723 SCV000169884 benign not specified 2013-03-20 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.
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics RCV000169723 SCV000221265 likely benign not specified 2015-03-02 criteria provided, single submitter clinical testing This variant was interpreted as likely benign based on ACMG evidence categories BS2 BP6.
Genome-Nilou Lab RCV001800418 SCV002045709 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001800418 SCV002482952 benign Mowat-Wilson syndrome 2024-02-01 criteria provided, single submitter clinical testing

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