Facts and Figures
Applications
Applications received: 3220
Applications under review: 474
Participants accepted: 1274
Evaluations
Participants evaluated: 1029
Participants diagnosed: 283
Participants with exome or genome sequencing complete: 1037
Participants with metabolomic analyses complete: 148
Participants with samples in the Central Biorepository: 692
Variants studied by the Model Organisms Screening Center: 203
Data Sharing
Manuscripts published: 53
ClinVar submissions: 248
Participants with data submitted to dbGaP: 450
Participants with data submitted to PhenomeCentral: 863
Last updated: February 25, 2019
Note: only proband data is reported here