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 |
|---|---|---|---|---|---|---|
| 23 | 10 | 78 | 84 | 11 | 2 | 205 |
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 |
|---|---|---|---|---|---|---|---|
| NHEJ1 | 23 | 10 | 65 | 67 | 8 | 2 | 172 |
| LOC126806516, NHEJ1 | 0 | 0 | 13 | 17 | 3 | 0 | 33 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 15 | 6 | 77 | 84 | 11 | 0 | 193 |
| OMIM | 8 | 0 | 0 | 0 | 0 | 0 | 8 |
| Fulgent Genetics, Fulgent Genetics | 0 | 3 | 1 | 0 | 0 | 0 | 4 |
| 3billion | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Genetic Diagnosis Centre, Dr. Behcet Uz Children's Hospital | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Next Generation Genetic Polyclinic | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 0 | 1 |