ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.374C>T (p.Thr125Met)

gnomAD frequency: 0.00004  dbSNP: rs727504227
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000658876 SCV000203824 uncertain significance not provided 2014-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000658876 SCV000725783 likely benign not provided 2021-02-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000658876 SCV000780675 uncertain significance not provided 2018-03-31 criteria provided, single submitter clinical testing
Invitae RCV001034452 SCV001197808 benign Mowat-Wilson syndrome 2023-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001034452 SCV002045607 likely benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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