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 |
|---|---|---|---|---|---|
| 7 | 6 | 6 | 0 | 0 | 18 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| DVL3 | 7 | 5 | 6 | 17 |
| FZD2 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| OMIM | 5 | 0 | 0 | 5 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 1 | 2 | 0 | 3 |
| Baylor Genetics | 1 | 0 | 1 | 2 |
| Revvity Omics, Revvity | 0 | 0 | 2 | 2 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 2 | 2 |
| Centogene AG - the Rare Disease Company | 0 | 1 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 1 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 1 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 1 | 0 | 1 |