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 |
|---|---|---|---|---|---|---|
| 1 | 1 | 10 | 0 | 0 | 1 | 13 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| MED12 | 1 | 1 | 10 | 0 | 12 |
| LOC126863275, MED12 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 3 | 0 | 4 |
| Génétique des Maladies du Développement, Hospices Civils de Lyon | 0 | 0 | 2 | 0 | 2 |
| Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital | 0 | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg | 0 | 0 | 1 | 0 | 1 |
| UCLA Clinical Genomics Center, UCLA | 0 | 1 | 0 | 0 | 1 |
| Geisinger Autism and Developmental Medicine Institute, Geisinger Health System | 0 | 0 | 1 | 0 | 1 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 1 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 1 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 1 | 1 |