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 |
|---|---|---|---|---|---|
| 15 | 5 | 162 | 239 | 12 | 431 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ITCH | 15 | 5 | 161 | 239 | 12 | 430 |
| AHCY, ITCH | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 11 | 3 | 156 | 239 | 12 | 421 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 0 | 3 | 0 | 0 | 3 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 3 | 0 | 0 | 3 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 1 | 0 | 0 | 2 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 1 | 0 | 0 | 2 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 2 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 0 | 0 | 1 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 0 | 1 | 0 | 1 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 1 | 0 | 0 | 0 | 0 | 1 |