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 |
|---|---|---|---|---|---|---|
| 8 | 4 | 6 | 2 | 0 | 11 | 23 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| GATA1 | 8 | 4 | 6 | 2 | 11 | 23 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| GeneReviews | 0 | 0 | 0 | 0 | 11 | 11 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 3 | 2 | 0 | 6 |
| ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology | 3 | 2 | 1 | 0 | 0 | 6 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 0 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 1 | 0 | 0 | 0 | 0 | 1 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz | 1 | 0 | 0 | 0 | 0 | 1 |