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 |
|---|---|---|---|---|---|
| 20 | 4 | 69 | 10 | 25 | 127 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| MC2R | 17 | 4 | 69 | 10 | 25 | 124 |
| MRAP | 3 | 0 | 0 | 0 | 0 | 3 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 1 | 1 | 64 | 10 | 25 | 101 |
| OMIM | 10 | 0 | 0 | 0 | 0 | 10 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 7 | 0 | 0 | 0 | 0 | 7 |
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 3 | 2 | 0 | 6 |
| Baylor Genetics | 0 | 0 | 2 | 0 | 0 | 2 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 2 | 0 | 0 | 0 | 0 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 0 | 1 | 0 | 0 | 2 |
| Genome-Nilou Lab | 1 | 1 | 0 | 0 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 2 | 0 | 0 | 0 | 2 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 1 | 0 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 1 | 0 | 0 | 0 | 0 | 1 |
| Palindrome, Gene Kavoshgaran Aria | 1 | 0 | 0 | 0 | 0 | 1 |
| Breakthrough Genomics, Breakthrough Genomics | 1 | 0 | 0 | 0 | 0 | 1 |