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 |
|---|---|---|---|---|---|
| 50 | 13 | 165 | 156 | 32 | 405 |
Gene and significance breakdown #
Total genes and gene combinations: 6
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| SPAG1 | 44 | 10 | 137 | 125 | 28 | 338 |
| LOC130000832, SPAG1 | 5 | 3 | 26 | 28 | 3 | 61 |
| LOC130000831, SPAG1 | 0 | 0 | 0 | 1 | 1 | 2 |
| SPAG1, VPS13B | 0 | 0 | 1 | 1 | 0 | 2 |
| LOC130000829, LOC130000830, POLR2K, SPAG1 | 1 | 0 | 0 | 0 | 0 | 1 |
| LOC130000832, SPAG1, VPS13B | 0 | 0 | 1 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 48 | 8 | 156 | 152 | 31 | 395 |
| Fulgent Genetics, Fulgent Genetics | 1 | 3 | 9 | 2 | 2 | 17 |
| Revvity Omics, Revvity | 3 | 0 | 4 | 0 | 0 | 7 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 1 | 3 | 2 | 6 |
| Baylor Genetics | 0 | 0 | 5 | 0 | 0 | 5 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 4 | 4 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 1 | 0 | 0 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 0 | 0 | 0 | 1 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 0 | 1 | 0 | 0 | 0 | 1 |
| Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomics England Pilot Project, Genomics England | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Human Genetics, Hannover Medical School | 1 | 0 | 0 | 0 | 0 | 1 |