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 | not provided | total |
|---|---|---|---|---|---|---|
| 4 | 0 | 26 | 11 | 1 | 2 | 36 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| GPD1L | 4 | 26 | 11 | 1 | 2 | 36 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 19 | 8 | 0 | 0 | 27 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 2 | 1 | 0 | 3 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 2 | 0 | 0 | 0 | 2 |
| GeneReviews | 0 | 0 | 0 | 0 | 2 | 2 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 0 | 0 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 0 | 0 | 1 |
| MVZ Martinsried, Medicover Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 0 | 1 |
| SYNLAB MVZ HG Mannheim GmbH, Zentrum für Humangenetik Mannheim | 0 | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 1 | 0 | 0 | 0 | 1 |