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 |
|---|---|---|---|---|---|
| 9 | 5 | 8 | 0 | 0 | 22 |
Gene and significance breakdown #
Total genes and gene combinations: 7
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| ZP1 | 8 | 1 | 2 | 11 |
| NLRP5 | 0 | 2 | 2 | 4 |
| LOC126862935, NLRP5 | 0 | 0 | 2 | 2 |
| OOEP | 0 | 0 | 2 | 2 |
| LOC130065945, PABPC1L | 0 | 1 | 0 | 1 |
| PABPC1L | 1 | 0 | 0 | 1 |
| TUBB8 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Clinical Genetics Laboratory, Sir Run Run Shaw hospital | 0 | 2 | 6 | 8 |
| OMIM | 4 | 0 | 0 | 4 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 4 | 0 | 0 | 4 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 2 | 0 | 2 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 1 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 1 |
| Diagnostic Laboratory, Strasbourg University Hospital | 1 | 0 | 0 | 1 |
| Genomic Medicine Lab, University of California San Francisco | 1 | 0 | 0 | 1 |
| Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana | 0 | 1 | 0 | 1 |