ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.179C>T (p.Thr60Met)

gnomAD frequency: 0.00001  dbSNP: rs780890592
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703518 SCV000515292 benign not provided 2021-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000554354 SCV000641865 benign Mowat-Wilson syndrome 2023-12-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000554354 SCV002045615 uncertain significance Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411305 SCV002715004 benign Inborn genetic diseases 2019-07-30 criteria provided, single submitter clinical testing This alteration is classified as 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.

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