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 |
|---|---|---|---|---|---|
| 1 | 2 | 15 | 0 | 9 | 27 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| CCDC88C | 1 | 2 | 15 | 8 | 26 |
| CCDC88C, LOC130056326 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 9 | 9 |
| Baylor Genetics | 0 | 0 | 5 | 0 | 5 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 3 | 0 | 3 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 0 | 0 | 2 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Centogene AG - the Rare Disease Company | 0 | 0 | 1 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 1 |
| Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 1 |
| Department of Biochemistry, Faculty of Medicine, University of Khartoum | 0 | 1 | 0 | 0 | 1 |
| O&I group, Department of Genetics, University Medical Center of Groningen | 0 | 0 | 1 | 0 | 1 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 0 | 0 | 1 | 0 | 1 |
| Solve-RD Consortium | 0 | 1 | 0 | 0 | 1 |