Facts and Figures
Applications
Applications received: 4266
Applications under review: 555
Participants accepted: 1567
Evaluations
Participants evaluated: 1333
Participants diagnosed: 374
Participants with exome and/or genome sequencing complete: 1284
Participants with metabolomic analyses complete: 153
Participants with samples in the Central Biorepository: 750
Variants evaluated by the Model Organisms Screening Center: 273
Data Sharing
Manuscripts published: 80
ClinVar submissions: 356
Participants with data submitted to dbGaP: 450
Participants with data submitted to PhenomeCentral: 1181
Last updated: January 28, 2020
Note: only proband data is reported here