I also have some suggestions on GitHub: 1) In README.md, add software dependencies (for example, VEP, ANNOVAR, InterVar, AutoPVS1, vt, Bcftools); add where to get variant_summary.txt.gz and submission_summary.txt.gz before using them in select-clinVar-submissions.R, otherwise users will confuse when reading “Custom workflow example run”, until find what are they in FAQ; 2) In User-Guide, it would be great to add code of running AutoPVS1. It’s okay not to add if it is too complicated.
Addressing the following reviewer comments: