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 |
|---|---|---|---|---|---|
| 54 | 22 | 19 | 3 | 16 | 109 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ARSL | 14 | 3 | 16 | 3 | 15 | 47 |
| EBP | 27 | 15 | 3 | 0 | 0 | 44 |
| NSDHL | 12 | 4 | 0 | 0 | 1 | 17 |
| ARSD, ARSL | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Genetic Services Laboratory, University of Chicago | 19 | 19 | 3 | 0 | 0 | 41 |
| Invitae | 4 | 1 | 11 | 2 | 14 | 32 |
| OMIM | 24 | 0 | 0 | 0 | 0 | 24 |
| GeneReviews | 11 | 0 | 0 | 0 | 0 | 11 |
| Mendelics | 2 | 0 | 1 | 0 | 1 | 4 |
| ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories | 0 | 0 | 1 | 0 | 2 | 3 |
| Illumina Clinical Services Laboratory,Illumina | 1 | 0 | 1 | 0 | 0 | 2 |
| Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City | 1 | 1 | 0 | 0 | 0 | 2 |
| Centogene AG - the Rare Disease Company | 1 | 0 | 0 | 0 | 0 | 1 |
| Mayo Clinic Laboratories, Mayo Clinic | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, Klinikum rechts der Isar | 1 | 0 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 0 | 1 | 0 | 1 |
| Genomic Medicine Lab, University of California San Francisco | 0 | 0 | 1 | 0 | 0 | 1 |