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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



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