Facts and Figures
Applications
Applications received: 2780
Applications under review: 344
Participants accepted: 1179
Evaluations
Participants evaluated: 907
Participants diagnosed: 236
Participants with exome or genome sequencing complete: 868
Participants with metabolomic analyses complete: 139
Participants with variants studied by the Model Organisms Screening Center: 110
Participants with samples in the Central Biorepository: 665
Data Sharing
Manuscripts published: 38
ClinVar submissions: 164
Participants with data submitted to dbGaP: 150
Participants with data submitted to PhenomeCentral: 780
Last updated: September 24, 2018
Note: only proband data is reported here