Table 1 Contributing sites

From: Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Symbol

Name

Country/region

Cohort

Type

Alla

Ethnicityb

Biallelicc

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

654,426

364,788

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

680,985

383,388

472 (5)

  1. Symbols, names, geographical locations, tested populations, and the type of tests performed are listed.
  2. aThe total number of affected probands and screened populations contributed to statistical analyses of overall populations.
  3. bThe total number of probands with relevant ethnicity information contributed to the statistical analyses on ethnicity-stratified populations.
  4. cThe 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.
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