Here is a genetic alteration in DYNC1H1, LOC130056502 (dynein cytoplasmic 1 heavy chain 1| ATAC-STARR-seq lymphoblastoid active region 9063) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures