Steven Harrison, PhD FACMG reposted this
I worked with an amazing team over the last year to help refine variant classification of splicing variants and I'm excited to share our recommendations entitled "Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup" in #AJHG! Take a look and we're happy to have any feedback to improve #genetictesting. It is free to read until August 11th! https://lnkd.in/gkxdEku4