ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.5092C>T (p.Gln1698Ter) (rs930688767)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579233 SCV000681359 pathogenic not provided 2021-03-31 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 a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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