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 |
---|---|---|---|---|---|
0 | 2 | 48 | 37 | 6 | 79 |
Condition and significance breakdown #
Condition | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|
Hereditary breast ovarian cancer syndrome | 0 | 38 | 25 | 6 | 67 |
Breast-ovarian cancer, familial, susceptibility to, 2 | 0 | 5 | 6 | 4 | 14 |
not specified | 0 | 6 | 7 | 2 | 14 |
Hereditary cancer-predisposing syndrome | 2 | 4 | 4 | 1 | 11 |
not provided | 0 | 4 | 3 | 2 | 9 |
Fanconi anemia complementation group D1 | 1 | 3 | 1 | 1 | 6 |
Familial cancer of breast | 0 | 1 | 0 | 0 | 1 |
Fanconi anemia | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Submitter | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|
Invitae | 0 | 36 | 24 | 6 | 66 |
GeneDx | 0 | 1 | 7 | 1 | 9 |
Mendelics | 0 | 2 | 4 | 0 | 6 |
Illumina Laboratory Services, Illumina | 0 | 3 | 2 | 1 | 6 |
Genetic Services Laboratory, University of Chicago | 0 | 4 | 0 | 1 | 5 |
Sema4, Sema4 | 0 | 1 | 3 | 1 | 5 |
Quest Diagnostics Nichols Institute San Juan Capistrano | 0 | 5 | 0 | 0 | 5 |
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) | 0 | 0 | 0 | 4 | 4 |
Color Diagnostics, LLC DBA Color Health | 0 | 3 | 1 | 0 | 4 |
CeGaT Center for Human Genetics Tuebingen | 0 | 1 | 2 | 1 | 4 |
Ambry Genetics | 2 | 0 | 0 | 0 | 2 |
GeneKor MSA | 0 | 0 | 0 | 2 | 2 |
Baylor Genetics | 0 | 1 | 0 | 0 | 1 |
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin | 1 | 0 | 0 | 0 | 1 |
Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 1 |
Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 1 |