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Table 2 Validation data for SMARCB1 screening by HRM

From: Rapid detection of SMARCB1 sequence variation using high resolution melting

Exon Analysed Total Sample Number Coding sequence mutation identified by direct sequencing Polymorphism identified by direct sequencing Wild-type melt profiles Variant melt profiles False Positive Melt False Negative melt
Exon 1-1 14 0 0 13 1 1(7.1%) 0
Exon1-2 14 0 14
dinuc GC repeat
0 14 0 0
Exon 2 14 c157C>T (3180)
c157C>T (3641)
0 12 2 0 0
Exon 3 14 0 0 13 1 1(7.1%) 0
Exon 4 14 0 0 13 1 1(7.1%) 0
Exon 5 14 c601C>T (3161)
c569-570 ins18 (3180)
0 12 2 0 0
Exon 6 14 c795+2delinsATGA (3161) 0 12 1 1 (7.1%) 0
Exon 7 14 c933_934insAT (3331) 4
(SNPrs35817983)
10 4 0 0
Exon 8 14 0 0 10 4 4 (28.6%) 0
Exon 9 14 0 5
(SNP rs5030613)
9 6 1 (7.1%) 0
  1. Validation was performed on the sample series; 3022, 3073, 3074, 3161, 3180, 3327, 3331, 3356, 3441, 3473, 3474, 3567, 3640 and 3641.