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 |
|---|---|---|---|---|---|
| 15 | 5 | 105 | 8 | 25 | 157 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| PRX | 15 | 5 | 105 | 8 | 24 | 156 |
| PLD3, PRX | 0 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Clinical Services Laboratory,Illumina | 0 | 0 | 97 | 8 | 23 | 128 |
| Baylor Genetics | 3 | 1 | 5 | 0 | 0 | 9 |
| Athena Diagnostics Inc | 0 | 0 | 0 | 0 | 7 | 7 |
| OMIM | 6 | 0 | 0 | 0 | 0 | 6 |
| GeneReviews | 5 | 0 | 0 | 0 | 0 | 5 |
| Centre for Mendelian Genomics,University Medical Centre Ljubljana | 0 | 1 | 3 | 0 | 0 | 4 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 2 | 0 | 0 | 3 |
| Fulgent Genetics,Fulgent Genetics | 0 | 0 | 2 | 0 | 0 | 2 |
| CMT Laboratory,Bogazici University | 2 | 0 | 0 | 0 | 0 | 2 |
| Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics,Cologne University | 1 | 0 | 0 | 0 | 0 | 1 |
| Mayo Clinic Laboratories, Mayo Clinic | 0 | 0 | 1 | 0 | 0 | 1 |
| Kariminejad - Najmabadi Pathology & Genetics Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 0 | 1 |
| Section for Clinical Neurogenetics,University of Tübingen | 0 | 1 | 0 | 0 | 0 | 1 |