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 |
|---|---|---|---|---|---|---|
| 6 | 5 | 4 | 0 | 2 | 1 | 16 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| LIPT1, MITD1 | 6 | 5 | 4 | 2 | 1 | 16 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 2 | 0 | 0 | 0 | 3 |
| Baylor Genetics | 1 | 0 | 1 | 0 | 0 | 2 |
| Elsea Laboratory, Baylor College of Medicine | 0 | 1 | 1 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 2 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 1 | 0 | 0 | 2 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 1 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| UCLA Clinical Genomics Center, UCLA | 1 | 0 | 0 | 0 | 0 | 1 |
| Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas | 1 | 0 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 0 | 1 | 0 | 0 | 1 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 1 | 1 |