ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1112A>T (p.Asn371Ile)

gnomAD frequency: 0.00001  dbSNP: rs1290033369
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328795 SCV001519998 uncertain significance Mowat-Wilson syndrome 2019-05-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001328795 SCV002252077 likely benign Mowat-Wilson syndrome 2022-07-12 criteria provided, single submitter clinical testing

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