Facts and Figures
Applications
Applications received: 2284
Applications under review: 304
Participants accepted: 1000
Evaluations
Participants evaluated: 713
Participants diagnosed: 192
Participants with exome or genome sequencing complete: 658
Participants with metabolomic analyses complete: 113
Participants with variants studied by the Model Organisms Screening Center: 96
Participants with samples in the Central Biorepository: 509
Data Sharing
Manuscripts published: 27
Participants with data submitted to dbGaP: 150
Participants with data submitted to PhenomeCentral: 535
Participants with variants in ClinVar: 28*
Last updated: April 3, 2018
Note: only proband data is reported here
*Number of variants: 37