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. 2016 Dec 21;25(3):308–314. doi: 10.1038/ejhg.2016.182

Table 2a. Single gene tests before WES per category.

Categories Subcategories No. of individuals with single gene test(s) (%) No. of single gene tests (per individual) No. of individuals with GJB2/GJB6 test (%)
Total   137 (68.5%) 306 (1.5) 80 (40%)
WES result Causative variant(s) 45 (67.2%) 101 (1.5) 32 (47.8%)
  Variant(s) of uncertain significance 8 (80.0%) 17 (1.7) 4 (36.4%)
  No detected causative variant(s) 84 (68.3%) 188 (1.5) 44 (35.8%)
Inheritance adHI 45 (68.2%) 106 (1.6) 11 (16.7%)
  arHI 24 (77.4%) 43 (1.4) 17 (54.8%)
  Isolated HI 67 (55.8%) 154 (1.5) 51 (50.0%)
  X-linked HI 1 (100.0%) 3 (3.0) 1 (100.0%)