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 |
|---|---|---|---|---|---|---|
| 37 | 18 | 13 | 5 | 0 | 1 | 71 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| GBA1, LOC106627981 | 35 | 18 | 10 | 5 | 1 | 66 |
| GBA1 | 2 | 0 | 3 | 0 | 0 | 5 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 23 | 6 | 10 | 4 | 0 | 43 |
| Baylor Genetics | 21 | 8 | 0 | 0 | 0 | 29 |
| OMIM | 12 | 0 | 0 | 0 | 0 | 12 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 2 | 3 | 1 | 0 | 0 | 6 |
| 3billion | 1 | 0 | 0 | 1 | 0 | 2 |
| PreventionGenetics, part of Exact Sciences | 0 | 1 | 0 | 0 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 1 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 1 | 1 |
| Johns Hopkins Genomics, Johns Hopkins University | 0 | 1 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 0 | 1 | 0 | 0 | 1 |
| Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) | 1 | 0 | 0 | 0 | 0 | 1 |