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 |
|---|---|---|---|---|---|
| 13 | 5 | 24 | 33 | 3 | 75 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| GNAS | 13 | 5 | 24 | 33 | 3 | 75 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 7 | 0 | 9 | 33 | 2 | 51 |
| New York Genome Center | 1 | 1 | 11 | 0 | 0 | 13 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Division of Human Genetics, Children's Hospital of Philadelphia | 0 | 0 | 2 | 0 | 0 | 2 |
| 3billion | 1 | 0 | 1 | 0 | 0 | 2 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 1 | 0 | 0 | 0 | 1 |
| UCLA Clinical Genomics Center, UCLA | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 0 | 1 |
| HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) | 0 | 1 | 0 | 0 | 0 | 1 |
| Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 1 | 0 | 0 | 0 | 1 |