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Table 1 Summary of reported variant classification and interpretation [34]

From: Genetic testing and diagnosis of inherited retinal diseases

Result

Variant interpretation

Benign

Clearly not disease-causing

Likely benign

Unlikely to be disease-causing

Uncertain significance

Evidence is insufficient to support or reject pathogenicity, and additional data are needed

Likely pathogenic

Likely to be disease-causing

Pathogenic

Clearly disease-causing