The study design in Cummings et al. focused on rare myopathies using muscle RNA-seq, and ultimately 15 of their 17 novel diagnoses were within four well-known myopathy genes: COL6A1, DMD, NEB, and TTN. Cases were diagnosed if a complete genetic diagnosis could be inferred in the context of an outlier splice event. Here, COL6A1 is linked to myopathy.