Facts and Figures
Applications
Applications received: 3392
Applications under review: 491
Participants accepted: 1311
Evaluations
Participants evaluated: 1106
Participants diagnosed: 308
Participants with exome or genome sequencing complete: 1072
Participants with metabolomic analyses complete: 148
Participants with samples in the Central Biorepository: 692
Variants evaluated by the Model Organisms Screening Center: 213
Data Sharing
Manuscripts published: 61
ClinVar submissions: 248
Participants with data submitted to dbGaP: 450
Participants with data submitted to PhenomeCentral: 929
Last updated: April 22, 2019
Note: only proband data is reported here