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 | 5 | 3 | 0 | 0 | 11 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| IFT81 | 7 | 5 | 3 | 11 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| SIB Swiss Institute of Bioinformatics | 0 | 3 | 1 | 4 |
| Revvity Omics, Revvity | 1 | 1 | 1 | 3 |
| OMIM | 2 | 0 | 0 | 2 |
| Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital | 1 | 1 | 0 | 2 |
| Baylor Genetics | 0 | 1 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 0 | 1 | 1 |
| Rare Disease Group, Clinical Genetics, Karolinska Institutet | 1 | 0 | 0 | 1 |