ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2887-4G>A

gnomAD frequency: 0.00222  dbSNP: rs147972125
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081666 SCV000113597 benign not specified 2013-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000081666 SCV000169878 benign not specified 2013-05-20 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.
Invitae RCV000226669 SCV000289998 benign Mowat-Wilson syndrome 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311658 SCV000846763 benign Inborn genetic diseases 2016-04-08 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000226669 SCV002045664 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000226669 SCV002807561 benign Mowat-Wilson syndrome 2021-09-14 criteria provided, single submitter clinical testing

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