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 |
|---|---|---|---|---|---|---|
| 9 | 2 | 9 | 2 | 5 | 1 | 28 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| CDT1 | 9 | 2 | 9 | 2 | 5 | 1 | 28 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| OMIM | 5 | 0 | 0 | 0 | 0 | 0 | 5 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 3 | 1 | 0 | 0 | 4 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 4 | 0 | 4 |
| Revvity Omics, Revvity | 0 | 1 | 2 | 0 | 0 | 0 | 3 |
| Bicknell laboratory, University of Otago | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Mendelics | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Genetic Services Laboratory, University of Chicago | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 0 | 0 | 1 |