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 | 3 | 125 | 115 | 13 | 3 | 257 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| GNB4 | 4 | 3 | 125 | 115 | 13 | 3 | 257 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 3 | 2 | 120 | 114 | 13 | 0 | 252 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 1 | 4 | 2 | 0 | 7 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| 3billion | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Division of Genomics, Kyushu university | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Institute of Human Genetics Munich, TUM University Hospital | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 0 | 1 |