Table 2 Summary statistics for p.Met34Thr

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.Met34Thr	391	10,835	8336
Total number of p.Met34Thr heterozygotes	362	10,754	8282
Total number of p.Met34Thr homozygotes	29	81	54	16	11–25	13	<0.0001
Total number of p.Met34Thr compound heterozygotes^d	147	NA^e	135
Total number of p.Met34Thr alleles	420	10,916	8390
Overall p.Met34Thr allele frequency	0.0119	0.0068	0.0064
Number of European individuals tested for GJB2	7962	382,842	304,433
Number of European alleles tested for GJB2	15,924	765,684	608,866
Number of European individuals with p.Met34Thr	207	7915	5769
Number of European p.Met34Thr heterozygotes	193	7846	5725
Number of European p.Met34Thr homozygotes	14	69	44	9.8	5.5–17	7.8	<0.0001
Number of European p.Met34Thr compound heterozygotes^d with another GJB2 pathogenic allele	84	N/A^e	88^f	29^f	22–37^f	25^f	<0.0001^f
Number of European p.Met34Thr alleles	221	7984	5813	1.3	1.2–1.5	4.2	<0.0001
p.Met34Thr allele frequency in Europeans	0.0139	0.0104	0.0095

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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