ClinVar Miner

Submissions for variant NM_020061.6(OPN1LW):c.764_765del (p.Glu255fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003449008 SCV004176720 likely pathogenic Protan defect 2023-12-14 criteria provided, single submitter clinical testing The OPN1LW-Variant c.764_765del is classified by our institute as pathogenic as it is not present any database and is expected to result in a truncated protein. Our patient presented with colour blindness. An uncle close to the mother's side is also affected.

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