If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|
19 | 22 | 44 | 13 | 9 | 102 |
Gene and significance breakdown #
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
Illumina Laboratory Services, Illumina | 0 | 0 | 27 | 13 | 7 | 47 |
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology | 3 | 10 | 4 | 0 | 0 | 17 |
OMIM | 14 | 0 | 0 | 0 | 0 | 14 |
NIHR Bioresource Rare Diseases, University of Cambridge | 0 | 7 | 6 | 0 | 0 | 13 |
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 9 | 0 | 0 | 10 |
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center | 0 | 7 | 0 | 0 | 0 | 7 |
Genome-Nilou Lab | 0 | 0 | 0 | 0 | 3 | 3 |
Center for Precision Medicine, Vanderbilt University Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota | 0 | 1 | 0 | 0 | 0 | 1 |
3billion | 0 | 1 | 0 | 0 | 0 | 1 |
Suma Genomics | 1 | 0 | 0 | 0 | 0 | 1 |