Table 2.

Concordance of OGM with SOC Testing Results

Variable	Unblinded technical concordance	Classification agreement
Unclassified	NA	28
Concordant	399/401 (99.5)	364/373 (97.6)
Partially concordant	2/401 (0.5)	3/373 (0.8)
Discordant	0	6/373 (1.6)
Inconclusive (excluded from concordance rate)	3	3
Total	404	404

Data are given as number or number/total (percentage). Pathogenic variants, likely pathogenic variants, and some reported variants of uncertain significance, detected by Southern blot analysis, PCR, next-generation sequencing, karyotype, fluorescence in situ hybridization, and/or chromosomal microarray analysis, were evaluated in this data set. Technical concordance: samples were assessed for each variant according to the SOC results using software calling, visual inspection, and manual curation. Classification agreement: samples were assessed in a blinded manner by dual-analyst/reviewer process without knowledge of SOC result and only sex and indication for testing. Classification resulting from blind analysis and classification of each case were compared with the SOC (for this purpose, pathogenic and likely pathogenic classifications were grouped together). Details are in Supplemental Table S1.

NA, not applicable; OGM, optical genome mapping; SOC, standard of care.