ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003318184 SCV004021687 pathogenic not provided 2023-01-20 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); This variant is associated with the following publications: (PMID: 25525159, 16682970)
Baylor Genetics RCV003466054 SCV004216706 pathogenic Bardet-Biedl syndrome 14 2023-02-11 criteria provided, single submitter clinical testing

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