TABLE 1.

Summary and classification of rare variants identified by ES

Variable	Count (%)
Patients	21
Rare IPD variants	49
Variant pathogenicity classification
Benign	7 (14.3)
Likely benign	17 (34.7)
VUS	18 (36.7)
Likely pathogenic	6 (12.2)
Pathogenic	1 (2.0)
Average number of variants per patient	2.3
Variants per patient [range]	[0 - 7]
Number of patients without uncertain/pathogenic variants	6 (28.6)

ES, exome sequencing; IPD, inherited platelet disorder; VUS, variant of uncertain significance.