ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1880T>A (p.Val627Asp)

gnomAD frequency: 0.00001  dbSNP: rs730881176
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001410389 SCV001612435 likely benign Mowat-Wilson syndrome 2023-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000642260 SCV001998736 uncertain significance not provided 2020-02-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Genome-Nilou Lab RCV001410389 SCV002045596 likely benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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