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 |
|---|---|---|---|---|---|---|
| 3 | 1 | 6 | 9 | 13 | 1 | 30 |
Condition and significance breakdown #
Total conditions: 7
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Leigh syndrome | 0 | 0 | 3 | 8 | 13 | 0 | 24 |
| not provided | 0 | 0 | 4 | 1 | 0 | 1 | 6 |
| Mitochondrial disease | 0 | 1 | 0 | 0 | 1 | 0 | 2 |
| Abnormal mitral valve physiology | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Cardiomyopathy, apical hypertrophic, and neuropathy | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Cardiomyopathy, infantile hypertrophic | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Histiocytoid cardiomyopathy | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine | 1 | 0 | 3 | 8 | 13 | 0 | 25 |
| Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | 0 | 0 | 3 | 1 | 0 | 0 | 4 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen | 0 | 1 | 0 | 0 | 1 | 0 | 2 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Molecular Biology Laboratory, University of Basrah | 1 | 0 | 0 | 0 | 0 | 0 | 1 |