Facts and Figures
Applications
Applications received: 3772
Applications under review: 517
Participants accepted: 1429
Evaluations
Participants evaluated: 1219
Participants diagnosed: 350
Participants with exome or genome sequencing complete: 1183
Participants with metabolomic analyses complete: 151
Participants with samples in the Central Biorepository: 703
Variants evaluated by the Model Organisms Screening Center: 237
Data Sharing
Manuscripts published: 70
ClinVar submissions: 323
Participants with data submitted to dbGaP: 450
Participants with data submitted to PhenomeCentral: 1020
Last updated: August 27, 2019
Note: only proband data is reported here