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 |
|---|---|---|---|---|---|
| 8 | 1 | 5 | 3 | 3 | 20 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| SP7 | 2 | 1 | 5 | 3 | 3 | 14 |
| FKBP10 | 6 | 0 | 0 | 0 | 0 | 6 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| OMIM | 8 | 0 | 0 | 0 | 0 | 8 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 0 | 2 | 1 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 1 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 0 | 2 | 0 | 0 | 2 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 0 | 0 | 2 | 2 |
| Genome Diagnostics Laboratory, Amsterdam University Medical Center | 0 | 0 | 0 | 0 | 2 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 2 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare | 0 | 0 | 1 | 0 | 0 | 1 |
| Breda Genetics srl | 0 | 0 | 1 | 0 | 0 | 1 |
| Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) | 0 | 1 | 0 | 0 | 0 | 1 |