P624: A pilot study to evaluate the influence of a clinician outreach effort for VUS resolution in limb-girdle muscular dystrophy

Positive genetic testing for limb-girdle muscular dystrophy type 2 (LGMD2), a group of autosomal recessive conditions, can guide clinical management. For patients receiving uncertain results, direct evidence (eg, clinical information, genotyping relatives’ samples) can be requested, which may accelerate reclassification. Sarepta Therapeutics and Invitae partnered to monitor reclassification and outreach to clinicians of patients with LGMD2 uncertain results. The objective of this study was to evaluate the resolution of uncertain results in an LGMD2 cohort.