ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2486G>A (p.Ser829Asn)

dbSNP: rs730881198
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159480 SCV000209432 uncertain significance not provided 2019-04-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV000159480 SCV001715725 uncertain significance not provided 2019-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515909 SCV001724091 benign Mowat-Wilson syndrome 2023-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001515909 SCV002045587 likely benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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