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 |
|---|---|---|---|---|---|---|
| 5 | 0 | 172 | 0 | 0 | 3 | 177 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|
| PDGFRA | 5 | 171 | 3 | 176 |
| LOC126807054, PDGFRA | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|
| Baylor Genetics | 0 | 158 | 0 | 158 |
| St. Jude Molecular Pathology, St. Jude Children's Research Hospital | 0 | 17 | 0 | 17 |
| OMIM | 5 | 0 | 0 | 5 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 3 | 3 |
| Centogene AG - the Rare Disease Company | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 1 | 0 | 1 |