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 | not provided | total |
|---|---|---|---|---|---|---|
| 523 | 296 | 1063 | 2416 | 153 | 7 | 4422 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| LAMA2 | 503 | 289 | 1024 | 2343 | 148 | 7 | 4278 |
| LAMA2, LOC123864065 | 14 | 6 | 25 | 50 | 5 | 0 | 100 |
| LAMA2, LOC126859784 | 5 | 1 | 14 | 23 | 0 | 0 | 43 |
| LAMA2, LOC123864065, LOC126859783, LOC126859784 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 514 | 119 | 1056 | 2416 | 153 | 0 | 4258 |
| Myriad Genetics, Inc. | 6 | 165 | 3 | 0 | 0 | 0 | 174 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 27 | 14 | 0 | 0 | 0 | 0 | 41 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 3 | 1 | 2 | 0 | 0 | 0 | 6 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 0 | 4 | 4 |
| Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud | 2 | 2 | 0 | 0 | 0 | 0 | 4 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 1 | 0 | 0 | 0 | 0 | 0 | 1 |