Table 1.
Contributing sites
| Symbol | Name | Country/Region | Cohort | Type | All1 | Ethnicity2 | Biallelic3 |
|---|---|---|---|---|---|---|---|
| BCH | Boston Children’s Hospital | USA | Individuals with hearing loss | Diagnostic | 0 | 0 | 35 |
| CCHMC | Cincinnati Children’s Hospital Medical Center | USA | Individuals with hearing loss | Diagnostic | 1491 | 692 | 63 |
| CHOP | Children’s Hospital in Philadelphia | USA | Individuals with hearing loss | Diagnostic | 163 | 121 | 13 |
| Counsyl | Counsyl | USA | Reproductive adults | Screening | 654426 | 364788 | 0 |
| CUHK | Chinese University of Hong Kong | Hong Kong | Individuals with hearing loss; general population | Diagnostic and screening | 5839 | 5839 | 6 |
| DY | Dor Yeshorim | USA, Israel | Individuals with hearing loss and family members | Diagnostic and screening | 0 | 0 | 18 |
| EGL | EGL Genetics | USA | Individuals with hearing loss | Diagnostic | 1113 | 0 | 32 |
| GDWC | Guangdong Women and Children Hospital | China | Individuals with hearing loss; reproductive adults | Diagnostic and screening | 0 | 0 | 27 |
| HRyC | Hospital Ramon y Cajal | Spain | Individuals with hearing loss | Diagnostic | 3881 | 3777 | 65 |
| IG | Integrated Genetics, LabCorp | USA | Individuals with hearing loss | Diagnostic | 2883 | 0 | 0 |
| LMM | Laboratory for Molecular Medicine, Partners Personalized Medicine | USA | Individuals with hearing loss | Diagnostic | 3472 | 1697 | 135 (1) |
| NTMC | National Hospital Organization Tokyo Medical Center | Japan | Individuals with hearing loss | Diagnostic and screening | 1884 | 1884 | 56 (2) |
| TAU | Tel Aviv University (including those tested at Rabin and Sheba Medical Centers) | Israel | Individuals with hearing loss; reproductive adults | Diagnostic and screening | 719 | 0 | 3 (2) |
| UNC | University of North Carolina | USA | Individuals with hearing loss; general population | Diagnostic and screening | 5833 | 4590 | 8 |
| VGH | Taipei Veterans General Hospital | Taiwan | Individuals with hearing loss | Diagnostic | 45 | 45 | 11 |
| Total | 680985 | 383388 | 472 (5) | ||||
Symbols, names, geographical locations, tested populations, and the type of tests performed are listed.
1.
The total number of affected probands and screened populations contributed to statistical analyses of overall populations
2.
The total number of probands with relevant ethnicity information contributed to the statistical analyses on ethnicity-stratified populations
3.
The total number of p.Met34Thr or p.Val37Ile homozygotes and compound heterozygotes with clinical information contributed to the genotype-phenotype correlation analysis. The numbers of unaffected individuals confirmed by audiology evaluation are in parentheses.