Table 3.

Summary of BRCA1/2 variants present in the samples used in the RTT.

Variant Index	Sample	Variant	Clinical Classification	Expected Allelic Frequency (%)
1	DNA_1	BRCA1:c.3334G>T p.(Glu1112Ter)	P	49.1
2	DNA_2	BRCA2:c.8802_8828del p.(Met2935_Gln2943del)	LP	8.2
3	DNA_3	No pathogenic variant
4	FFPE_1	BRCA1:c.80+6T>A	VUS	47.4
5	FFPE_2	No pathogenic variant
6	FFPE_3	BRCA2:c.5351dupA p.(Asn1784Lysfs)	P	20.1
7	CC_1	BRCA2:c.5351del p.(Asn1784fs)	P	40
8	CC_1	BRCA1:c.4327C>T p.(Arg1443Ter)	P	32.5
9	CC_1	BRCA2:c.5073del p.(Lys1691fs)	P	32.5
10	CC_1	BRCA2:c.8021dup p.(Ile2675fs)	P	10
11	CC_1	BRCA1:c.1303G>T p.(Asp435Tyr)	VUS	7.5
12	CC_2	BRCA2:c.5351del p.(Asn1784fs)	P	10.2
13	CC_2	BRCA1:c.4327C>T p.(Arg1443Ter)	P	3.9
14	CC_2	BRCA2:c.5073delA p.(Lys1691AsnfsTer15)	P	3.1
15	CC_2	BRCA2:c.8021dup p.(Ile2675fs)	P	4.5
16	CC_2	BRCA1:c.1303G>T p.(Asp435Tyr)	VUS	8.2
17	CC_3	No pathogenic variant

P: pathogenic; LP: likely pathogenic; VUS: variant of unknown significance. Expected allelic frequencies below 5% are in bold.