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 |
|---|---|---|---|---|---|
| 4 | 2 | 768 | 714 | 97 | 1585 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| PLCG2 | 4 | 2 | 767 | 714 | 97 | 1584 |
| BCO1, CMIP, GAN, GCSH, PKD1L2, PLCG2 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 1 | 1 | 762 | 714 | 91 | 1569 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 13 | 13 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 3 | 0 | 1 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| CENTOGENE GmbH and LLC - Guiding Precision Medicine | 0 | 0 | 1 | 0 | 0 | 1 |
| Center for Precision Medicine, Vanderbilt University Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomics Facility, Ludwig-Maximilians-Universität München | 0 | 1 | 0 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 1 |