ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1446A>C (p.Glu482Asp)

dbSNP: rs886043609
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000310453 SCV000340981 uncertain significance not provided 2016-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001052444 SCV001216654 benign Mowat-Wilson syndrome 2023-08-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001052444 SCV002045629 uncertain significance Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392806 SCV002701535 uncertain significance Inborn genetic diseases 2022-03-10 criteria provided, single submitter clinical testing The c.1446A>C (p.E482D) alteration is located in exon 8 (coding exon 7) of the ZEB2 gene. This alteration results from a A to C substitution at nucleotide position 1446, causing the glutamic acid (E) at amino acid position 482 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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