Facts and Figures
Applications
Applications received: 3601
Applications under review: 514
Participants accepted: 1372
Evaluations
Participants evaluated: 1166
Participants diagnosed: 323
Participants with exome or genome sequencing complete: 1135
Participants with metabolomic analyses complete: 148
Participants with samples in the Central Biorepository: 703
Variants evaluated by the Model Organisms Screening Center: 223
Data Sharing
Manuscripts published: 65
ClinVar submissions: 248
Participants with data submitted to dbGaP: 450
Participants with data submitted to PhenomeCentral: 990
Last updated: June 24, 2019
Note: only proband data is reported here