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 |
|---|---|---|---|---|---|
| 6 | 5 | 340 | 42 | 116 | 506 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| HSPG2 | 5 | 5 | 291 | 35 | 101 | 435 |
| HSPG2, LDLRAD2 | 1 | 0 | 38 | 7 | 13 | 58 |
| HSPG2, LOC126805655 | 0 | 0 | 11 | 0 | 2 | 13 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 321 | 42 | 100 | 463 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 51 | 51 |
| Baylor Genetics | 1 | 0 | 12 | 0 | 0 | 13 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 3 | 0 | 1 | 5 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| 3billion | 1 | 1 | 0 | 0 | 0 | 2 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 0 | 0 | 2 | 0 | 0 | 2 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 1 | 1 | 0 | 0 | 2 |
| Mendelics | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 0 | 1 |
| Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University | 0 | 0 | 1 | 0 | 0 | 1 |
| Pathology and Clinical Laboratory Medicine, King Fahad Medical City | 0 | 1 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 0 | 0 | 0 | 1 |