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 |
|---|---|---|---|---|---|---|
| 4 | 7 | 38 | 23 | 0 | 1 | 73 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| SYNE1 | 4 | 6 | 36 | 22 | 1 | 69 |
| ESR1, SYNE1 | 0 | 0 | 1 | 0 | 0 | 1 |
| LOC126859837, SYNE1 | 0 | 1 | 0 | 0 | 0 | 1 |
| LOC126859838, SYNE1 | 0 | 0 | 1 | 0 | 0 | 1 |
| LOC129997480, SYNE1 | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 3 | 0 | 21 | 22 | 0 | 46 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 2 | 15 | 1 | 0 | 18 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 1 | 2 | 0 | 0 | 0 | 3 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 1 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 0 | 1 | 0 | 0 | 0 | 1 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 1 | 1 |
| Kariminejad - Najmabadi Pathology & Genetics Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Neurology Laboratory, National Cheng Kung University Hospital | 0 | 1 | 0 | 0 | 0 | 1 |
| Service de Génétique Moléculaire, Hôpital Robert Debré | 0 | 1 | 0 | 0 | 0 | 1 |
| University of Washington Department of Laboratory Medicine, University of Washington | 0 | 0 | 1 | 0 | 0 | 1 |