This study performed GJB2 resequencing and variant reanalysis, ES, and GS on a retrospective cohort of 23 individuals with hearing loss and known heterozygosity for an apparently pathogenic variant in GJB2. This combined effort yielded 11 new diagnoses (48% diagnostic yield), including detection of a recently characterized, small upstream deletion of the GJB2 locus. Here, GJB2 is linked to hearing loss disorder.