Table 1

Summary of the results of gene panel targeted sequencing in 1179 individuals

	Variants (n)	Individuals (n)*	Percentage†
Individuals without potential disease causing variant	0	524	44.44
Individuals with potential disease causing variants identified	592	655	55.56
Individuals with single contributing variant	297	480	40.71
Individuals with two or multiple contributing variants	295	175	14.84
Number of variants identified
Pathogenic and likely pathogenic variants	21	33	2.80
Variants of unknown significance	570	634	53.77
Benign or likely benign variants	1	1	0.08
Type of variant
Frameshift deletion	8	15	1.27
Frameshift insertion	5	5	0.42
Non-frameshift deletion	10	10	0.85
Non-frameshift insertion	6	12	1.02
Non-synonymous SNV	546	607	51.48%
Stopgain SNV	18	30	2.54%