COL6A2 and Bethlem myopathy: SNV analysis also revealed a missense Variant of Uncertain Significance (VUS) in 1 UMD and 1 suspected LGMD case in COL6A2 (P52) and COL6A1 (P97) gene, respectively (Table 1) which causes Bethlem myopathy 1 (LGMD R22 Collagen6-related) disease as per the Clinvar database (Landrum et al., 2014).