Steven Harrison, PhD FACMG’s Post

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

Spread the word! The 2023 ClinGen Clinical Genomics Career Panel Webinar Series starts June 28th. Open to all individuals interested in pursuing a career in clinical genomics. See the full schedule and register here: https://lnkd.in/gcJ75h8x

Great catching up with colleagues at #ACMGMtg23 in Salt Lake City. Keep an eye out for a point-based sequence variant interpretation guideline later this year, led by Heidi Rehm, Steven Harrison, PhD FACMG, @Leslie Biesecker and other colleagues (#ACMG #AMP #CAP #ClinGen) 👇. A major leap forward since the 2015 ACMG guideline! Grateful to be part of this amazing effort!