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 | 3 | 1 | 0 | 12 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| CRYGC, LOC100507443 | 8 | 1 | 3 | 1 | 12 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| OMIM | 4 | 0 | 1 | 0 | 5 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 1 |
| Mendelics | 0 | 0 | 1 | 0 | 1 |
| ClinVar Staff, National Center for Biotechnology Information (NCBI) | 1 | 0 | 0 | 0 | 1 |
| Eye Genetics Research Group, Children's Medical Research Institute | 1 | 0 | 0 | 0 | 1 |
| Miami Human Genetics, University Of Miami Miller School Of Medicine | 1 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 0 | 1 | 1 |
| The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital | 1 | 0 | 0 | 0 | 1 |
| Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania | 0 | 1 | 0 | 0 | 1 |