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 |
|---|---|---|---|---|---|
| 3 | 4 | 90 | 68 | 7 | 163 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 0 | 2 | 60 | 65 | 5 | 129 |
| Inborn genetic diseases | 0 | 0 | 32 | 0 | 0 | 32 |
| Pyruvate dehydrogenase phosphatase deficiency | 3 | 2 | 8 | 0 | 1 | 13 |
| not specified | 0 | 0 | 2 | 6 | 3 | 11 |
| PDP1-related disorder | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 52 | 58 | 4 | 114 |
| Ambry Genetics | 0 | 0 | 32 | 0 | 0 | 32 |
| GeneDx | 0 | 2 | 8 | 12 | 4 | 26 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 2 | 1 | 2 | 5 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 4 | 0 | 0 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 3 | 0 | 3 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 3 | 0 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 2 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 1 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 0 | 1 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 0 | 1 | 0 | 0 | 1 |
| Mayo Clinic Laboratories, Mayo Clinic | 0 | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |