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 |
|---|---|---|---|---|---|
| 30 | 9 | 636 | 429 | 35 | 1086 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| JUP | 30 | 9 | 633 | 429 | 34 | 1082 |
| JUP, LOC130060847 | 0 | 0 | 3 | 0 | 1 | 4 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 26 | 6 | 552 | 418 | 31 | 1033 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 95 | 9 | 5 | 109 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 90 | 12 | 0 | 102 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 5 | 0 | 0 | 5 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 5 | 5 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 3 | 0 | 0 | 3 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 2 | 0 | 0 | 0 | 2 |
| New York Genome Center | 0 | 0 | 2 | 0 | 0 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 1 | 0 | 0 | 1 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 0 | 1 | 0 | 0 | 1 |
| Clinical Genomics Laboratory, Stanford Medicine | 0 | 0 | 1 | 0 | 0 | 1 |
| Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University | 0 | 1 | 0 | 0 | 0 | 1 |