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 |
|---|---|---|---|---|---|---|
| 8 | 2 | 40 | 2 | 3 | 1 | 56 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| TALDO1 | 3 | 1 | 31 | 2 | 3 | 1 | 41 |
| LOC126861110, TALDO1 | 5 | 1 | 9 | 0 | 0 | 0 | 15 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 32 | 2 | 3 | 0 | 37 |
| Baylor Genetics | 2 | 0 | 5 | 0 | 0 | 0 | 7 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 0 | 5 |
| Revvity Omics, Revvity | 1 | 0 | 2 | 0 | 0 | 0 | 3 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 1 | 0 | 0 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 1 | 0 | 0 | 0 | 2 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Elsea Laboratory, Baylor College of Medicine | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Dr Sami Ulus Medical Genetics Department, Dr Sami Ulus Training and Research Hospital for Maternity and Children's Health and Diseases | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Genomics And Bioinformatics Analysis Resource, Columbia University | 0 | 1 | 0 | 0 | 0 | 0 | 1 |