Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance.
Human Mutation
Spurdle, Amanda B AB; Lakhani, Sunil R SR; Da Silva, Leonard M LM; Balleine, Rosemary L RL; , ; Goldgar, David E DE