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 |
|---|---|---|---|---|---|
| 74 | 19 | 1550 | 1115 | 64 | 2780 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| RET | 74 | 19 | 1515 | 1093 | 61 | 2722 |
| LOC106736614, RET | 0 | 0 | 29 | 8 | 0 | 36 |
| LOC130003710, RET | 0 | 0 | 4 | 14 | 0 | 17 |
| LOC110121502, MCS+9.7, RET | 0 | 0 | 0 | 0 | 3 | 3 |
| LOC106736614, LOC110121502, LOC130003705, LOC130003706, LOC130003707, LOC130003708, LOC130003709, LOC130003710, MCS+9.7, RET | 0 | 0 | 2 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 73 | 13 | 1471 | 1074 | 63 | 2694 |
| All of Us Research Program, National Institutes of Health | 7 | 4 | 361 | 177 | 4 | 553 |
| Color Diagnostics, LLC DBA Color Health | 3 | 3 | 8 | 17 | 16 | 47 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 6 | 0 | 0 | 0 | 0 | 6 |
| St. Jude Molecular Pathology, St. Jude Children's Research Hospital | 0 | 0 | 5 | 1 | 0 | 6 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 5 | 0 | 0 | 0 | 0 | 5 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 4 | 5 |
| Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| CSER _CC_NCGL, University of Washington | 1 | 0 | 0 | 0 | 0 | 1 |
| Hadassah Hebrew University Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |