ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2908C>T (p.Gln970Ter)

dbSNP: rs1057518185
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413102 SCV000491626 pathogenic not provided 2023-10-25 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796169 SCV005417497 pathogenic Mowat-Wilson syndrome criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM6_Supporting

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