Solving Medical Mysteries
Through Team Science

Facts and Figures

Applications received: 5124
Applications under review: 321
Participants accepted: 2035

Participants evaluated: 1618
Participants diagnosed: 484
Participants with exome and/or genome sequencing complete: 1468
Participants with metabolomic analyses complete: 204
Participants with samples in the Central Biorepository: 1080
Variants evaluated by the Model Organisms Screening Center: 345

Data Sharing
Manuscripts published: 143
ClinVar submissions: 527
Participants with data available in dbGaP: 1216
Participants with data submitted to PhenomeCentral: 1505

Last updated: July 12, 2021
Please note: family members are not included in these calculations. The number of applications received does not include applications that were withdrawn. Some of the participants diagnosed have not been evaluated. These participants are not included in the number of participants evaluated.