ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.297C>T (p.Asn99=)

gnomAD frequency: 0.00007  dbSNP: rs147603619
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705497 SCV000525192 likely benign not provided 2019-09-21 criteria provided, single submitter clinical testing
Invitae RCV000260737 SCV000763930 benign Mowat-Wilson syndrome 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000260737 SCV002045712 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436185 SCV002750635 likely benign Inborn genetic diseases 2018-01-26 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.

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