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Author: William Lowery MD

Practicing pulmonary physician in northern California
and Chairman of the LGMD-1D DNAJB6 Foundation and
the International Autosomal Dominant Muscular Dystrophy Registry.

2021 Update on VUS Resolution: How Can a Patient Get Involved. GENOME CONNECT (NIH sponsored)

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

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