ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1221C>T (p.His407=)

gnomAD frequency: 0.00006  dbSNP: rs144613207
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547652 SCV000641859 likely benign Mowat-Wilson syndrome 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316555 SCV000851661 likely benign Inborn genetic diseases 2017-04-20 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.
GeneDx RCV001637074 SCV001849597 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000547652 SCV002045696 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001637074 SCV004033764 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing ZEB2: BP4, BP7

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