ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.798G>C (p.Gly266=)

gnomAD frequency: 0.00078  dbSNP: rs34961586
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000148005 SCV000169862 benign not specified 2013-01-22 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.
Genetic Services Laboratory, University of Chicago RCV000148005 SCV000195503 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000148005 SCV000231740 benign not specified 2015-05-15 criteria provided, single submitter clinical testing
Invitae RCV000266678 SCV000555867 benign Mowat-Wilson syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316379 SCV000850751 likely benign Inborn genetic diseases 2016-08-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Genome-Nilou Lab RCV000266678 SCV002045701 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003221815 SCV003916135 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ZEB2: BP4, BS1

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