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 |
---|---|---|---|---|---|
27 | 3 | 44 | 24 | 16 | 108 |
Gene and significance breakdown #
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
Invitae | 16 | 0 | 22 | 16 | 15 | 69 |
Illumina Laboratory Services, Illumina | 0 | 0 | 19 | 7 | 1 | 27 |
OMIM | 7 | 0 | 0 | 0 | 0 | 7 |
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 6 | 0 | 0 | 0 | 0 | 6 |
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 1 | 2 | 1 | 0 | 4 |
Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
Mendelics | 0 | 0 | 0 | 1 | 0 | 1 |
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 1 | 0 | 0 | 0 | 1 |
Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 0 | 0 | 1 | 1 |
Genomic Medicine Lab, University of California San Francisco | 0 | 1 | 0 | 0 | 0 | 1 |
Provincial Medical Genetics Program of British Columbia, University of British Columbia | 1 | 0 | 0 | 0 | 0 | 1 |