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 |
|---|---|---|---|---|---|---|
| 3 | 5 | 7 | 0 | 2 | 1 | 17 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| CEP63 | 3 | 5 | 6 | 2 | 1 | 16 |
| GAREM2, HADHA | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| Baylor Genetics | 0 | 0 | 3 | 0 | 0 | 3 |
| Dr. med. U. Finckh, Human Genetics, Eurofins MVZ | 0 | 0 | 2 | 0 | 0 | 2 |
| Rare Disease Group, Clinical Genetics, Karolinska Institutet | 0 | 2 | 0 | 0 | 0 | 2 |
| Service de Génétique Moléculaire, Hôpital Robert Debré | 1 | 1 | 0 | 0 | 0 | 2 |
| Genetic Services Laboratory, University of Chicago | 1 | 0 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 0 | 1 |
| GenomeConnect - CFC International | 0 | 0 | 0 | 0 | 1 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 0 | 1 | 0 | 1 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 0 | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| Pediatrics Genetics, Post Graduate Institute of Medical Education and Research | 0 | 1 | 0 | 0 | 0 | 1 |
| Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 0 | 1 |