Variant Assessment Scientist I

Key responsibilities: Write and interpret molecular test results, including literature reviews and summaries Participate in updating and developing variant classification guidelines Research novel methods for assessing sequence variants and manage pre-classification workflowsRequired qualifications: PhD and/or MD in molecular genetics, human genetics, molecular pathology, or a related field; MS with exceptional expertise may also be considered Minimum of 2 years of experience in variant assessment Prior experience in variant assessment and reporting specialty preferred Knowledge of current theories and principles of human genetics Cardiology experience preferred