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 |
|---|---|---|---|---|---|
| 37 | 1 | 170 | 41 | 19 | 265 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| RAB3GAP2 | 5 | 1 | 82 | 18 | 6 | 109 |
| RAB18 | 5 | 0 | 54 | 13 | 9 | 81 |
| RAB3GAP1 | 19 | 0 | 17 | 4 | 2 | 42 |
| RAB3GAP1, ZRANB3 | 3 | 0 | 17 | 6 | 2 | 28 |
| TBC1D20 | 5 | 0 | 0 | 0 | 0 | 5 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Clinical Services Laboratory,Illumina | 0 | 0 | 160 | 34 | 15 | 209 |
| OMIM | 25 | 0 | 0 | 0 | 0 | 25 |
| Invitae | 0 | 0 | 12 | 7 | 4 | 23 |
| GeneReviews | 14 | 0 | 0 | 0 | 0 | 14 |
| Genetic Services Laboratory, University of Chicago | 3 | 0 | 0 | 0 | 0 | 3 |
| Department of Genetics,Sultan Qaboos University Hospital, Oman | 3 | 0 | 0 | 0 | 0 | 3 |
| Baylor Miraca Genetics Laboratories, | 2 | 0 | 0 | 0 | 0 | 2 |
| Fulgent Genetics | 0 | 0 | 2 | 0 | 0 | 2 |
| Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen | 0 | 0 | 0 | 0 | 2 | 2 |
| Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Research Center,Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences | 1 | 0 | 0 | 0 | 0 | 1 |
| Ege University Pediatric Genetics,Ege University | 1 | 0 | 0 | 0 | 0 | 1 |