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 |
|---|---|---|---|---|---|
| 3 | 2 | 20 | 1 | 2 | 28 |
Condition and significance breakdown #
Total conditions: 8
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 1 | 0 | 9 | 0 | 2 | 12 |
| Inborn genetic diseases | 0 | 0 | 8 | 1 | 0 | 9 |
| CLDN5-related neurodevelopmental disorder | 1 | 2 | 0 | 0 | 0 | 3 |
| CLDN5 deficiency | 1 | 0 | 0 | 0 | 0 | 1 |
| CLDN5-associated neurodevelopmental disorder | 0 | 0 | 1 | 0 | 0 | 1 |
| Neurodevelopmental abnormality | 0 | 0 | 1 | 0 | 0 | 1 |
| Neurodevelopmental disorder | 1 | 0 | 0 | 0 | 0 | 1 |
| Syndromic disease | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| GeneDx | 1 | 0 | 9 | 0 | 2 | 12 |
| Ambry Genetics | 0 | 0 | 8 | 1 | 0 | 9 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 0 | 2 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 1 |
| Illumina Laboratory Services, Illumina | 1 | 0 | 0 | 0 | 0 | 1 |
| Undiagnosed Diseases Network, NIH | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine | 0 | 0 | 1 | 0 | 0 | 1 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Pediatrics, The Affiliated Hospital of Qingdao University | 1 | 0 | 0 | 0 | 0 | 1 |