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 |
|---|---|---|---|---|---|
| 34 | 11 | 174 | 170 | 36 | 418 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ODAD2 | 31 | 11 | 161 | 154 | 33 | 384 |
| LOC126860891, ODAD2 | 2 | 0 | 9 | 12 | 2 | 25 |
| LOC132089773, ODAD2 | 1 | 0 | 4 | 4 | 1 | 9 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 28 | 7 | 171 | 168 | 32 | 406 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 9 | 0 | 0 | 0 | 0 | 9 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 1 | 1 | 5 | 7 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 2 | 2 | 6 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 5 | 5 |
| Revvity Omics, Revvity | 1 | 1 | 1 | 0 | 0 | 3 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 2 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology | 0 | 0 | 1 | 0 | 0 | 1 |
| Biology Pathology Center, Lille University Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 1 | 0 | 0 | 0 | 0 | 1 |
| UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill | 0 | 1 | 0 | 0 | 0 | 1 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 1 | 0 | 0 | 0 | 1 |