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 | 5 | 6 | 0 | 2 | 15 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| CEP63 | 3 | 5 | 6 | 2 | 15 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Baylor Genetics | 0 | 0 | 3 | 0 | 3 |
| Service de Génétique Moléculaire, Hôpital Robert Debré | 1 | 1 | 0 | 0 | 2 |
| Rare Disease Group, Clinical Genetics, Karolinska Institutet | 0 | 2 | 0 | 0 | 2 |
| Dr. med. U. Finckh, Human Genetics, Eurofins MVZ | 0 | 0 | 2 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Genetic Services Laboratory, University of Chicago | 1 | 0 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 1 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 0 | 0 | 1 | 0 | 1 |
| Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 0 | 1 | 1 |
| Pediatrics Genetics, Post Graduate Institute of Medical Education and Research | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 1 |