ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.142-3T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, University Hospital of Toulouse RCV002291351 SCV002583619 likely pathogenic Iris coloboma 2022-10-15 criteria provided, single submitter clinical testing LP (PS2, PM2, PP3)
GeneDx RCV003317588 SCV004021647 uncertain significance not provided 2023-07-20 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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