ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1527G>A (p.Pro509=)

gnomAD frequency: 0.00004  dbSNP: rs759999662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604443 SCV000730503 likely benign not provided 2020-11-15 criteria provided, single submitter clinical testing
Invitae RCV000873129 SCV001015063 likely benign Mowat-Wilson syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395624 SCV002709667 likely benign Inborn genetic diseases 2017-11-16 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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