ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1161A>G (p.Leu387=)

gnomAD frequency: 0.00084  dbSNP: rs146673563
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081651 SCV000113582 benign not specified 2012-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000081651 SCV000169865 benign not specified 2013-12-01 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 RCV000081651 SCV000195483 likely benign not specified 2015-01-23 criteria provided, single submitter clinical testing
Invitae RCV000393530 SCV000555858 benign Mowat-Wilson syndrome 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714220 SCV000844913 benign not provided 2017-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316257 SCV000849743 likely benign Inborn genetic diseases 2016-04-29 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 RCV000393530 SCV002045697 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000714220 SCV002544073 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ZEB2: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV000393530 SCV002803355 likely benign Mowat-Wilson syndrome 2021-10-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000393530 SCV004563133 benign Mowat-Wilson syndrome 2023-10-09 criteria provided, single submitter clinical testing

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