Facts and Figures
Applications
Applications received: 4138
Applications under review: 557
Participants accepted: 1523
Evaluations
Participants evaluated: 1307
Participants diagnosed: 367
Participants with exome and/or genome sequencing complete: 1274
Participants with metabolomic analyses complete: 153
Participants with samples in the Central Biorepository: 703
Variants evaluated by the Model Organisms Screening Center: 270
Data Sharing
Manuscripts published: 80
ClinVar submissions: 326
Participants with data submitted to dbGaP: 450
Participants with data submitted to PhenomeCentral: 1129
Last updated: December 16, 2019
Note: only proband data is reported here