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 |
|---|---|---|---|---|---|
| 2 | 1 | 41 | 8 | 8 | 58 |
Condition and significance breakdown #
Total conditions: 4
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not specified | 0 | 0 | 35 | 6 | 2 | 43 |
| MAFA-related disorder | 0 | 0 | 1 | 3 | 5 | 9 |
| Islet cell adenomatosis | 2 | 1 | 4 | 0 | 1 | 7 |
| Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 35 | 4 | 0 | 39 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 1 | 3 | 5 | 9 |
| Genetic Services Laboratory, University of Chicago | 0 | 0 | 0 | 2 | 2 | 4 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 2 | 0 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| SIB Swiss Institute of Bioinformatics | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 0 | 1 | 0 | 0 | 1 |
| Pars Genome Lab | 0 | 0 | 0 | 0 | 1 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz | 1 | 0 | 0 | 0 | 0 | 1 |