Facts and Figures
Applications
Applications received: 4419
Applications under review: 509
Participants accepted: 1630
Evaluations
Participants evaluated: 1385
Participants diagnosed: 392
Participants with exome and/or genome sequencing complete: 1215
Participants with metabolomic analyses complete: 157
Participants with samples in the Central Biorepository: 885
Variants evaluated by the Model Organisms Screening Center: 281
Data Sharing
Manuscripts published: 84
ClinVar submissions: 357
Participants with data submitted to dbGaP: 450
Participants with data submitted to PhenomeCentral: 1228
Last updated: March 24, 2020
Note: only proband data is reported here