From the overall cohort, 343/623 (55%) rare disease patients; [Muscular Dystrophy- 65%; (DMD n= 139, BMD n= 11), SCA type 1‐3 ‐ 53% (SCA1 n= 61,SCA2 n= 23, SCA3 n= 39), HD- 52% (n= 45) and SMA- 34% (n= 22)] were positive for initial molecular diagnostics by MLPA and single plex PCR. The gene discussed is SMN1; the disease is muscular dystrophy.