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 | 3 | 3 | 0 | 0 | 1 | 12 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| COL18A1 | 4 | 1 | 2 | 1 | 8 |
| COL18A1, SLC19A1 | 1 | 2 | 1 | 0 | 4 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| MGZ Medical Genetics Center | 2 | 1 | 0 | 0 | 3 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 1 | 1 | 0 | 0 | 2 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 1 |
| Daryl Scott Lab, Baylor College of Medicine | 1 | 0 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 1 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 0 | 0 | 1 | 0 | 1 |
| GenomeConnect - Brain Gene Registry | 0 | 0 | 0 | 1 | 1 |
| Genetic Medical Diagnostic Laboratory CellGenetics, GMDL CellGenetics | 0 | 1 | 0 | 0 | 1 |
| Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology | 0 | 0 | 1 | 0 | 1 |