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 | 69 | 8 | 9 | 91 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| LEPR | 5 | 2 | 61 | 7 | 7 | 80 |
| LEPR, LEPROT | 0 | 0 | 4 | 1 | 1 | 6 |
| LEPR, LOC122094844 | 0 | 0 | 4 | 0 | 1 | 5 |
Submitter and significance breakdown #
Total submitters: 16
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 60 | 7 | 7 | 74 |
| New York Genome Center | 0 | 0 | 7 | 0 | 0 | 7 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 1 | 2 | 4 |
| Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 0 | 0 | 0 | 3 | 3 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 0 | 0 | 3 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 2 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Athena Diagnostics | 0 | 0 | 0 | 0 | 1 | 1 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 0 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 1 | 0 | 0 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 0 | 1 |
| Gujarat Genomics Initiative, Gujarat State Biotechnology Mission | 1 | 0 | 0 | 0 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 0 | 1 |
| Molecular Endocrinology Laboratory, Christian Medical College | 0 | 0 | 1 | 0 | 0 | 1 |