ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.265_267delinsTGA (p.Arg89Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289077 SCV002581504 pathogenic Cataract 18 2022-03-04 criteria provided, single submitter clinical testing
GeneDx RCV004812441 SCV005437972 pathogenic not provided 2024-06-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 36274208)

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