ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1836G>A (p.Ala612=)

gnomAD frequency: 0.00003  dbSNP: rs754916469
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529939 SCV000641866 likely benign Mowat-Wilson syndrome 2023-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311863 SCV000846769 likely benign Inborn genetic diseases 2016-06-01 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.
GeneDx RCV001644649 SCV001858814 benign not provided 2015-05-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000529939 SCV002045685 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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