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 | 0 | 20 | 4 | 12 | 37 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| MILR1, POLG2 | 3 | 20 | 4 | 12 | 37 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 10 | 3 | 9 | 22 |
| OMIM | 3 | 1 | 0 | 0 | 4 |
| Baylor Genetics | 0 | 3 | 0 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 0 | 3 | 3 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 2 | 0 | 0 | 2 |
| Centogene AG - the Rare Disease Company | 0 | 1 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 1 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 0 | 1 | 1 |
| Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn | 0 | 1 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 0 | 1 | 0 | 0 | 1 |