ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2256G>A (p.Thr752=)

gnomAD frequency: 0.00001  dbSNP: rs772121083
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418799 SCV000515295 likely benign not specified 2018-03-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001457225 SCV001661024 likely benign Mowat-Wilson syndrome 2022-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446658 SCV002736515 likely benign Inborn genetic diseases 2018-07-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV001457225 SCV002807064 likely benign Mowat-Wilson syndrome 2022-04-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992290 SCV004811443 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing ZEB2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003972582 SCV004793846 likely benign ZEB2-related disorder 2019-02-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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