Table 1.

Diagnostic laboratory information for BRCA1-positive samples included in panel of 94 samples assayed blind by meltMADGE

		Diagnostic laboratory information
Sample ID	Amplicon ID	Mutation	Method	MeltMADGE detection
5	Exon 2	185delAG	HA	+
71	11B	1138delG	HA	+
83	11B	1218insA	DS	+
87	11B	1131A→T	PTT	+
52	11D	1445T→A	DS	+
70	11G	2187delA	PTT	+
7	11I	2594delC	SSCP	+
88	11J	2773delTC	PTT	See Discussion
90	11J	2804delAA	HA	See Discussion
10	11N	3519G→T	PTT	+
60	11O	3695insT	HA	+
95	11O	3826delAA	PTT	+
72	11P	3882delAA	HA	+
81	11Q	4184del4	SSCP/HA	+
30,34	Exon 20	5382insC	HA	+

Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population