Gene Connect is the ultimate patient registry where a patient can upload their symptoms , testing and genetic result and can help resolve their variant of unknown significance (VUS or VOUS). Please have a current genetic panel, 2020 onward. The more recent gene panel for neuromuscular gene variants the better.
Gene Connect is managed by ClinGen which is a database and curating group of experts that can continue to process your results helping you and others.
See Gene Connect video HERE
See how to upload your genetic test HERE
Connect and start HERE