Lastly, there were two BRCA2 missense variants that overlapped each laboratories’ lists, both of which lacked a HWA score suggestive of a highly penetrant variant and each of which were present in FA patients: c.7878 G > C (p.(Trp2626Cys))57,58 and c.9302 T > G (p.(Leu3101Arg)) (Ambry internal data) (Table 1). Here, BRCA2 is linked to Friedreich ataxia.