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 |
|---|---|---|---|---|---|---|
| 13 | 6 | 3 | 0 | 0 | 3 | 21 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| PIK3CA | 12 | 3 | 3 | 3 | 17 |
| PIK3R1 | 0 | 3 | 0 | 0 | 3 |
| GNA11 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 8 | 0 | 0 | 0 | 8 |
| Fulgent Genetics, Fulgent Genetics | 2 | 0 | 3 | 0 | 5 |
| OMIM | 4 | 0 | 0 | 0 | 4 |
| GeneReviews | 1 | 0 | 0 | 3 | 4 |
| Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet | 1 | 1 | 0 | 0 | 2 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 1 | 0 | 0 | 2 |
| Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School | 0 | 2 | 0 | 0 | 2 |
| Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg | 1 | 0 | 0 | 0 | 1 |
| Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen | 0 | 1 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 1 | 0 | 0 | 1 |
| Medical Genetics Laboratory, Aldo Moro University of Bari | 1 | 0 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 1 | 0 | 0 | 0 | 1 |