ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.395A>G (p.Asn132Ser)

gnomAD frequency: 0.00004  dbSNP: rs369622877
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698217 SCV000531147 benign not provided 2020-06-15 criteria provided, single submitter clinical testing
Invitae RCV000464715 SCV000543405 benign Mowat-Wilson syndrome 2023-12-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000464715 SCV002045710 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902597 SCV004727689 likely benign ZEB2-related condition 2022-08-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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