Facts and Figures
Applications
Applications received: 2486
Applications under review: 320
Participants accepted: 1078
Evaluations
Participants evaluated: 783
Participants diagnosed: 207
Participants with exome or genome sequencing complete: 725
Participants with metabolomic analyses complete: 123
Participants with variants studied by the Model Organisms Screening Center: 99
Participants with samples in the Central Biorepository: 537
Data Sharing
Manuscripts published: 29
ClinVar submissions: 164
Participants with data submitted to dbGaP: 150
Participants with data submitted to PhenomeCentral: 583
Last updated: June 4, 2018
Note: only proband data is reported here