Abstract
As genetic testing increasingly informs clinical decision making across medical specialties, accurate variant interpretation is essential to ensure patients receive appropriate care. Current guidelines for genomic sequence variant interpretation delineate the evidence that should be incorporated in variant assessments as well as how different types of evidence should be weighted. Variants can be re-interpreted and reclassified over time as new evidence accrues. The Advanced Molecular Diagnostics Laboratory (AMDL) at Mount Sinai Hospital in Toronto, Ontario, provides publicly funded multigene panel testing for patients with suspected hereditary disorders.
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