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 |
|---|---|---|---|---|---|
| 14 | 1 | 8 | 0 | 7 | 30 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| HACE1 | 14 | 1 | 8 | 6 | 29 |
| HACE1, LOC113121301 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 8 | 0 | 0 | 0 | 8 |
| Genome-Nilou Lab | 0 | 0 | 0 | 6 | 6 |
| Revvity Omics, Revvity | 1 | 1 | 2 | 0 | 4 |
| Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli | 2 | 0 | 0 | 0 | 2 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 2 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 1 |
| Mendelics | 1 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 1 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 1 |
| Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille | 1 | 0 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 1 |
| Paris Brain Institute, Inserm - ICM | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 1 |