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Measuring historical variant reclassification in inherited retinal disease and its impact on clinical genetic testing.

Ophthalmic genetics - 1 Feb 2026

Kern Karly, Gordon Adam, Drackley Andy, Rossen Jennifer, Allegretti Valerie, Aufox Sharon, Ing Alexander

Abstract excerpt

INTRODUCTION: Inherited retinal diseases (IRDs) are clinically and genetically diverse conditions whose heterogeneity makes molecular diagnosis challenging. These challenges can lead to interpretation discordance which has a particular impact on gene-targeted therapies for IRD. METHODS: Discordance was evaluated in a clinical testing cohort and in ClinVar. 140 sequence variants identified through genetic testing...

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PMID: 41057982
DOI: 10.1080/13816810.2025.2568002

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RPE65

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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