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 |
|---|---|---|---|---|---|
| 1 | 2 | 28 | 1 | 0 | 32 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| not specified | 0 | 0 | 23 | 0 | 23 |
| Knobloch syndrome 2 | 0 | 2 | 2 | 0 | 4 |
| PAK2-related disorder | 0 | 0 | 2 | 1 | 3 |
| Knobloch syndrome | 1 | 0 | 0 | 0 | 1 |
| not provided | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 21 | 0 | 21 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 2 | 1 | 3 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| GeneDx | 0 | 0 | 1 | 0 | 1 |
| ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories | 0 | 0 | 1 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 1 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 0 | 1 | 0 | 1 |
| Laboratoire de Génétique Moléculaire, CHU Bordeaux | 0 | 1 | 0 | 0 | 1 |
| Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine | 0 | 1 | 0 | 0 | 1 |