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 |
|---|---|---|---|---|---|
| 7 | 4 | 3 | 0 | 2 | 13 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| RPL13 | 7 | 4 | 3 | 0 | 11 |
| LOC130059823, RPL13 | 0 | 0 | 0 | 1 | 1 |
| LOC130059824, RPL13 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 4 | 0 | 0 | 0 | 4 |
| Center for Molecular Medicine, Karolinska Institute | 3 | 0 | 0 | 0 | 3 |
| Rare Disease Group, Clinical Genetics, Karolinska Institutet | 1 | 2 | 0 | 0 | 3 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 1 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 2 | 2 |
| 3billion, Medical Genetics | 1 | 0 | 1 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 0 | 0 | 1 |
| Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen | 1 | 0 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 1 | 0 | 0 | 1 |
| Undiagnosed Diseases Network, NIH | 1 | 0 | 0 | 0 | 1 |
| Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 1 |