Learning objectives

• Introduce ClinVar and it’s role in interpreting gene variants from next generation genome sequencing of patients with clinical diagnoses.
• Learn about a new type of submission of variants with functional data supporting a pathological role.
• Unforeseen challenges in submitting a peer-reviewed, large database of mRNA splicing mutations to ClinVar.
• Integrate evidence based functional data with ACMG/AMP criteria for variant pathogenicity from previous submissions and implications.