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 |
|---|---|---|---|---|---|
| 33 | 16 | 139 | 160 | 25 | 366 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ABCG5, DYNC2LI1 | 20 | 10 | 97 | 105 | 15 | 243 |
| ABCG5 | 8 | 4 | 34 | 51 | 7 | 104 |
| ABCG8 | 4 | 2 | 7 | 1 | 0 | 13 |
| ABCG5, ABCG8 | 1 | 0 | 0 | 3 | 3 | 5 |
| ABCG5, ABCG8, DYNC2LI1, LRPPRC | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 28 | 13 | 127 | 155 | 22 | 345 |
| Illumina Laboratory Services, Illumina | 3 | 1 | 8 | 5 | 1 | 18 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 2 | 1 | 0 | 0 | 0 | 3 |
| Mendelics | 0 | 0 | 1 | 0 | 2 | 3 |
| Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham | 0 | 0 | 3 | 0 | 0 | 3 |
| SIB Swiss Institute of Bioinformatics | 0 | 1 | 1 | 0 | 0 | 2 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Blueprint Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg | 1 | 0 | 0 | 0 | 0 | 1 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Traditional Chinese Medicine, Fujian Provincial Hospital | 1 | 0 | 0 | 0 | 0 | 1 |