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 |
|---|---|---|---|---|---|---|
| 3 | 0 | 211 | 190 | 101 | 3 | 497 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| UBA1 | 3 | 184 | 170 | 88 | 3 | 438 |
| LOC126863253, UBA1 | 0 | 24 | 20 | 13 | 0 | 56 |
| INE1, UBA1 | 0 | 2 | 0 | 0 | 0 | 2 |
| LOC130068210, UBA1 | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| Invitae | 0 | 193 | 185 | 99 | 0 | 477 |
| Illumina Laboratory Services, Illumina | 0 | 11 | 4 | 20 | 0 | 35 |
| Revvity Omics, Revvity | 0 | 4 | 1 | 0 | 0 | 5 |
| Genome-Nilou Lab | 0 | 0 | 1 | 3 | 0 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| GeneReviews | 0 | 0 | 0 | 0 | 3 | 3 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 2 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 1 | 0 | 0 | 0 | 1 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 1 | 0 | 0 | 0 | 0 | 1 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 0 | 1 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 0 | 0 | 0 | 1 |