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 | not provided | total |
|---|---|---|---|---|---|---|
| 10 | 4 | 7 | 0 | 1 | 1 | 22 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| MTFMT | 10 | 4 | 7 | 1 | 1 | 22 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| OMIM | 8 | 0 | 0 | 0 | 0 | 8 |
| Baylor Genetics | 2 | 0 | 5 | 0 | 0 | 7 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 2 | 0 | 0 | 1 | 0 | 3 |
| DASA | 1 | 2 | 0 | 0 | 0 | 3 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 1 | 0 | 0 | 2 |
| Genetic Services Laboratory, University of Chicago | 1 | 0 | 0 | 0 | 0 | 1 |
| Mayo Clinic Laboratories, Mayo Clinic | 0 | 0 | 1 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 1 | 0 | 0 | 0 | 0 | 1 |
| UCLA Clinical Genomics Center, UCLA | 0 | 1 | 0 | 0 | 0 | 1 |
| Division of Human Genetics, Children's Hospital of Philadelphia | 1 | 0 | 0 | 0 | 0 | 1 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 1 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 1 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 1 | 0 | 0 | 0 | 0 | 1 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 1 | 0 | 0 | 0 | 1 |