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 |
|---|---|---|---|---|---|
| 9 | 7 | 23 | 0 | 1 | 38 |
Gene and significance breakdown #
Total genes and gene combinations: 6
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| DYRK1B | 2 | 0 | 13 | 0 | 15 |
| LIPE, LOC101930071 | 3 | 2 | 4 | 0 | 8 |
| MTTP | 0 | 2 | 4 | 1 | 7 |
| CELA2A | 4 | 1 | 0 | 0 | 5 |
| LIPE | 0 | 1 | 2 | 0 | 2 |
| AHDC1 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 8 | 0 | 0 | 0 | 8 |
| Fulgent Genetics, Fulgent Genetics | 0 | 2 | 4 | 1 | 7 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 2 | 3 | 0 | 5 |
| New York Genome Center | 0 | 0 | 5 | 0 | 5 |
| Baylor Genetics | 0 | 1 | 3 | 0 | 4 |
| Revvity Omics, Revvity | 0 | 0 | 4 | 0 | 4 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 0 | 2 | 0 | 3 |
| Mendelics | 2 | 0 | 0 | 0 | 2 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 1 | 0 | 2 |
| Genetic Services Laboratory, University of Chicago | 0 | 1 | 0 | 0 | 1 |
| Intergen, Intergen Genetics and Rare Diseases Diagnosis Center | 0 | 0 | 1 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 1 | 0 | 0 | 1 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 0 | 1 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 0 | 1 | 0 | 0 | 1 |