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 |
|---|---|---|---|---|---|
| 14 | 3 | 67 | 9 | 25 | 118 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| MMP2 | 11 | 3 | 64 | 9 | 25 | 112 |
| MMP14 | 2 | 0 | 3 | 0 | 0 | 5 |
| LPCAT2 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 57 | 9 | 25 | 91 |
| OMIM | 7 | 0 | 0 | 0 | 0 | 7 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 4 | 1 | 1 | 0 | 0 | 6 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 6 | 6 |
| Baylor Genetics | 1 | 0 | 3 | 0 | 0 | 4 |
| Mendelics | 1 | 0 | 2 | 0 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 1 | 0 | 3 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 0 | 2 | 0 | 0 | 0 | 2 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 0 | 1 | 0 | 0 | 1 |
| Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Medical Molecular Genetics Department, National Research Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital | 0 | 0 | 1 | 0 | 0 | 1 |