Facts and Figures
Applications
Applications received: 3958
Applications under review: 542
Participants accepted: 1484
Evaluations
Participants evaluated: 1258
Participants diagnosed: 353
Participants with exome or genome sequencing complete: 1226
Participants with metabolomic analyses complete: 151
Participants with samples in the Central Biorepository: 698
Variants evaluated by the Model Organisms Screening Center: 258
Data Sharing
Manuscripts published: 75
ClinVar submissions: 326
Participants with data submitted to dbGaP: 450
Participants with data submitted to PhenomeCentral: 1047
Last updated: October 21, 2019
Note: only proband data is reported here