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Table 1 Purpose and potential sources of improvement by variant reinterpretation and expanded analysis

From: Increased diagnostic yield by reanalysis of data from a hearing loss gene panel

Step Purpose Potential sources of improvement
Variant reinterpretation To reassess the pathogenicity of variants New evidence from publications to upgrade the pathogenicity
New standards and guidelines for variant interpretation
Expanded analysis To detect copy number variants
To expand analysis to other hearing loss related genes
Missed copy number variants
Phenotypic heterogeneity
Incorrect targeted panel tested