So, we have modified this paragraph to introduce this information: “Only two variants (c.404+3A>G and c.705+3A>G) displayed 26% and 21% of the mgFL-transcript, respectively. Unfortunately, it is not known the minimal amount of RAD51C expression to confer tumor suppressor haplosufficiency so, these splicing assays were not considered informative (PVS1_O_N/A).” Note that leaky variants generate complex minigene read-outs (two or more transcripts), and are therefore classified accordingly (see methods).
I only had minor suggestions or comments: Line 156 – the authors refer to “ad-hoc rules” that they have developed for consideration of the different coding transcripts associated with the same spliceogenic variant in variant interpretation and classification.