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 | not provided | total |
|---|---|---|---|---|---|---|
| 7 | 2 | 4 | 0 | 3 | 1 | 16 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| IFT74 | 5 | 2 | 4 | 3 | 1 | 14 |
| IFT172 | 2 | 0 | 0 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 3 | 0 | 3 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| 3billion | 1 | 1 | 0 | 0 | 0 | 2 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 1 | 1 | 0 | 0 | 0 | 2 |
| Department of Neurology, Kindai University | 2 | 0 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| DNA-diagnostics Laboratory, Research Centre For Medical Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomic Medicine Lab, University of California San Francisco | 0 | 1 | 0 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center | 0 | 1 | 0 | 0 | 0 | 1 |