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 |
|---|---|---|---|---|---|
| 5 | 6 | 41 | 9 | 5 | 59 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| CRYBA4, CRYBB1 | 5 | 6 | 40 | 9 | 5 | 58 |
| CRYBB1 | 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 | 1 | 1 | 14 | 8 | 5 | 29 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 25 | 2 | 1 | 28 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 1 | 0 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 2 | 0 | 0 | 0 | 2 |
| Molecular Medicine, University of Pavia | 0 | 0 | 2 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 1 | 0 | 0 | 0 | 0 | 1 |
| Miami Human Genetics, University Of Miami Miller School Of Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 0 | 0 | 1 |
| Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota | 0 | 1 | 0 | 0 | 0 | 1 |
| Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | 0 | 0 | 0 | 1 | 0 | 1 |