Facts and Figures
Applications
Applications received: 2993
Applications under review: 393
Participants accepted: 1221
Evaluations
Participants evaluated: 974
Participants diagnosed: 260
Participants with exome or genome sequencing complete: 991
Participants with metabolomic analyses complete: 148
Participants with variants studied by the Model Organisms Screening Center: 119
Participants with samples in the Central Biorepository: 691
Data Sharing
Manuscripts published: 45
ClinVar submissions: 248
Participants with data submitted to dbGaP: 450
Participants with data submitted to PhenomeCentral: 823
Last updated: December 18, 2018
Note: only proband data is reported here