ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2547T>C (p.Val849=)

gnomAD frequency: 0.00006  dbSNP: rs908943407
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000921514 SCV001066918 likely benign Mowat-Wilson syndrome 2024-12-15 criteria provided, single submitter clinical testing

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