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 |
|---|---|---|---|---|---|
| 16 | 8 | 86 | 18 | 27 | 141 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| BIVM-ERCC5, ERCC5 | 14 | 6 | 72 | 18 | 25 | 124 |
| BIVM-ERCC5, ERCC5, LOC126861834 | 2 | 2 | 14 | 0 | 2 | 17 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 77 | 10 | 25 | 112 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 1 | 2 | 7 | 7 | 17 |
| OMIM | 14 | 0 | 0 | 0 | 0 | 14 |
| Genome Diagnostics Laboratory, Amsterdam University Medical Center | 1 | 0 | 1 | 5 | 6 | 13 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 7 | 2 | 1 | 11 |
| Mendelics | 1 | 0 | 1 | 2 | 1 | 5 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 3 | 1 | 0 | 0 | 3 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 1 | 1 | 0 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 2 |
| Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University | 0 | 1 | 1 | 0 | 0 | 2 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 0 | 0 | 1 | 1 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 1 | 0 | 0 | 1 |
| 3billion | 0 | 0 | 1 | 0 | 0 | 1 |