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 |
|---|---|---|---|---|---|
| 5 | 2 | 20 | 5 | 2 | 33 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| LMF1 | 5 | 1 | 19 | 4 | 2 | 30 |
| LMF1, LOC130058141 | 0 | 0 | 1 | 1 | 0 | 2 |
| LPL | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| New York Genome Center | 0 | 0 | 16 | 0 | 0 | 16 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 5 | 1 | 8 |
| Baylor Genetics | 1 | 0 | 2 | 0 | 0 | 3 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 1 | 1 | 0 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 |
| Mendelics | 2 | 0 | 0 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 1 | 0 | 0 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 0 | 0 | 0 | 1 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 0 | 0 | 1 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 0 | 0 | 1 |
| Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation | 1 | 0 | 0 | 0 | 0 | 1 |
| DASA | 1 | 0 | 0 | 0 | 0 | 1 |