Table 3 Summary statistics for p.Val37Ile

All^a	Cases^b	Population^c	Counsyl	OR	95% CI	Z	P value
Total number of individuals tested for GJB2	17,635	802,339	654,426
Total number of alleles tested for GJB2	35,270	1,604,678	1,308,852
Total number of individuals with p.Val37Ile	464	10,233	7609
Total number of p.Val37Ile heterozygotes	313	9887	7370
Total number of p.Val37Ile homozygotes	151	346	239	20	17–24	31	<0.0001
Total number of p.Val37Ile compound heterozygotes^d	115	N/A^e	96
Total number of p.Val37Ile alleles	615	10,488	7848
Overall p.Val37Ile allele frequency	0.0174	0.0065	0.0060
Number of Asian individuals tested for GJB2	2066	75,857	60,355
Number of Asian alleles tested for GJB2	4132	151,714	120,710
Number of Asian individuals with p.Val37Ile	197	6173	4023
Number of Asian p.Val37Ile heterozygotes	113	5898	3852
Number of Asian p.Val37Ile homozygotes	84	275	171	12	9.1–15	19	<0.0001
Number of Asian p.Val37Ile compound heterozygotes^d with another GJB2 pathogenic allele	49	N/A^e	46^f	19^f	15–24^f	26^f	<0.0001^f
Number of Asian p.Val37Ile alleles	281	6360	4194	1.7	1.5–1.9	8.1	<0.0001
p.Val37Ile allele frequency in Asians	0.0680	0.0419	0.0347

CI confidence interval, OR odds ratio.
Bold values indicate odds ratio exceeding 5 to meet PS4, as specified by the HL ClinGen group.
^aOnly probands (unrelated individuals) were counted. However, we could not rule out the possibility of related cases from different sites because cases were de-identified before being shared. Nevertheless, the likelihood of such occurrence would be low and would not significantly impact the conclusion.
^bThe total number of cases included in statistical analyses did not include BCH, DY, and GDWC where the total number of individuals tested at these sites were not available.
^cThe total population data were from Counsyl, CUHK, TAU, UNC, and gnomAD.
^dCompound heterozygosity was presumed in individuals with a second pathogenic or likely pathogenic variant in GJB2 that had never been reported to have occurred in cis.
^eNA: Not available, because individual allele state information is not available from gnomAD.
^fAnalyses involving compound heterozygotes were performed using Counsyl data as the population control (see “Materials and Methods”).

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