Figure 2. ClinVar Aggregate Classification at Time of Submission.
Of the 179 identified unique variants, 41.9% were absent in ClinVar at time of the BGR submission. Of the 103 variants present in ClinVar, the aggregate ClinVar classification was assessed. Enrollment of subjects into the BGR and coregistration of rare genetic variants, neurobehavioral, and EHR data have impact regardless of presence in ClinVar or ClinVar classification. BGR, Brain Gene Registry.