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 |
|---|---|---|---|---|---|
| 21 | 16 | 71 | 2 | 2 | 107 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| LCAT | 19 | 13 | 62 | 2 | 2 | 93 |
| LCAT, SLC12A4 | 2 | 3 | 7 | 0 | 0 | 12 |
| DTHD1 | 0 | 0 | 1 | 0 | 0 | 1 |
| LCAT, LOC130059254 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 4 | 12 | 50 | 2 | 0 | 68 |
| Illumina Laboratory Services, Illumina | 0 | 1 | 19 | 1 | 2 | 23 |
| OMIM | 18 | 0 | 0 | 0 | 0 | 18 |
| New York Genome Center | 0 | 0 | 4 | 0 | 0 | 4 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 1 | 0 | 0 | 2 |
| Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile | 2 | 0 | 0 | 0 | 0 | 2 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen | 0 | 1 | 0 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |
| 3billion | 0 | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 0 | 0 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 0 | 0 | 1 | 0 | 0 | 1 |