Sma led dync1h1 mutation
Hello, I have several dync1h1 mutations and i am looking for expert who can confirm if they are pathogenic (report says acmg likely pathogenic)
Thanks
Hi there! Apologies for the delay in response. I do not live with SMA so I'm hoping that one of our patient leaders or community members can chime in on this matter. In the meantime, I suggest consulting with your health care physician/SMA specialist to understand a bit more about the impacts of these mutation. Good luck and please keep us posted! Best, Abby (Team Member).
