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 | risk factor | total |
|---|---|---|---|---|---|---|
| 6 | 3 | 96 | 83 | 8 | 1 | 187 |
Condition and significance breakdown #
Total conditions: 9
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|---|---|
| not provided | 5 | 1 | 70 | 82 | 6 | 0 | 160 |
| Inborn genetic diseases | 0 | 0 | 22 | 0 | 0 | 0 | 22 |
| Parkinson disease 13, autosomal dominant, susceptibility to | 0 | 0 | 13 | 4 | 4 | 1 | 21 |
| HTRA2-related disorder | 0 | 0 | 1 | 2 | 2 | 0 | 5 |
| Parkinson disease 13, autosomal dominant, susceptibility to; 3-methylglutaconic aciduria type 8 | 0 | 1 | 1 | 2 | 1 | 0 | 5 |
| 3-methylglutaconic aciduria type 8 | 1 | 1 | 1 | 0 | 0 | 0 | 3 |
| HTRA2-Related Disorders | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Leigh syndrome | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| not specified | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 5 | 0 | 57 | 80 | 3 | 0 | 145 |
| GeneDx | 0 | 1 | 13 | 8 | 5 | 0 | 27 |
| Ambry Genetics | 0 | 0 | 22 | 0 | 0 | 0 | 22 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 12 | 4 | 4 | 0 | 20 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 4 | 4 | 0 | 0 | 8 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 1 | 2 | 2 | 0 | 5 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 1 | 2 | 1 | 0 | 5 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 0 | 5 | 0 | 5 |
| OMIM | 1 | 0 | 1 | 0 | 0 | 1 | 3 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 1 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Mayo Clinic Laboratories, Mayo Clinic | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Institute for Genomic Medicine, Nationwide Children's Hospital | 0 | 0 | 1 | 0 | 0 | 0 | 1 |