Facts and Figures
Applications
Applications received: 5486
Applications under review: 325
Participants accepted: 2184
Evaluations
Participants evaluated: 1822
Participants diagnosed: 528
Participants with exome and/or genome sequencing complete: 1576
Participants with metabolomic analyses complete: 231
Participants with samples in the Central Biorepository: 1139
Variants evaluated by the Model Organisms Screening Center: 362
Data Sharing
Manuscripts published: 154
ClinVar submissions: 557
Participants with data available in dbGaP: 1319
Participants with data submitted to PhenomeCentral: 1660
Last updated: January 6, 2022
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 The number of applications received does not include applications that were withdrawn.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.