Table 1.

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

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