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 | 2 | 7 | 0 | 0 | 10 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| LOC101928525, MRPS2 | 3 | 2 | 5 | 8 |
| MRPS2 | 0 | 0 | 2 | 2 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| OMIM | 3 | 0 | 0 | 3 |
| SIB Swiss Institute of Bioinformatics | 3 | 0 | 0 | 3 |
| Baylor Genetics | 0 | 0 | 2 | 2 |
| Revvity Omics, Revvity | 0 | 0 | 2 | 2 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 1 | 1 | 2 |
| New York Genome Center | 0 | 0 | 2 | 2 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 1 | 0 | 1 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 0 | 0 | 1 | 1 |
| Laboratory of Biochemistry, Assistance Publique Hopitaux de Paris - Bicetre Hospital | 1 | 0 | 0 | 1 |