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 |
|---|---|---|---|---|---|
| 1 | 1 | 46 | 4 | 0 | 50 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Inborn genetic diseases | 0 | 0 | 40 | 0 | 40 |
| Charcot-Marie-Tooth disease, axonal, type 2FF | 1 | 1 | 4 | 0 | 5 |
| not provided | 0 | 1 | 2 | 2 | 5 |
| not specified | 0 | 0 | 0 | 2 | 2 |
| Prostate cancer | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 40 | 0 | 40 |
| GeneDx | 0 | 1 | 1 | 0 | 2 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 0 | 0 | 2 | 2 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 2 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 1 |
| Science for Life laboratory, Karolinska Institutet | 0 | 0 | 1 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 0 | 0 | 1 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 1 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 0 | 1 | 0 | 1 |
| Undiagnosed Diseases Network, NIH | 0 | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 1 |
| Clinical Genetics Laboratory, Skane University Hospital Lund | 0 | 0 | 1 | 0 | 1 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 0 | 0 | 1 | 0 | 1 |