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 |
|---|---|---|---|---|---|
| 8 | 4 | 21 | 4 | 2 | 37 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| PNKP | 8 | 4 | 21 | 4 | 2 | 37 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 14 | 3 | 1 | 19 |
| Baylor Genetics | 2 | 0 | 4 | 0 | 0 | 6 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 1 | 2 | 1 | 0 | 3 |
| Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) | 1 | 1 | 0 | 0 | 0 | 2 |
| Mendelics | 1 | 0 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| Hadassah Hebrew University Medical Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 0 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 1 | 0 | 0 | 0 | 1 |
| Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico | 1 | 0 | 0 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |