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 | likely risk allele | not provided | total |
|---|---|---|---|---|---|---|---|
| 3 | 0 | 97 | 9 | 0 | 3 | 2 | 112 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | uncertain significance | likely benign | likely risk allele | not provided | total |
|---|---|---|---|---|---|---|
| SLITRK1 | 2 | 92 | 9 | 0 | 2 | 103 |
| CELSR3 | 0 | 1 | 0 | 3 | 0 | 4 |
| HDC | 1 | 3 | 0 | 0 | 0 | 4 |
| SOX5 | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | uncertain significance | likely benign | likely risk allele | not provided | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 91 | 9 | 0 | 0 | 100 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Yale Center for Mendelian Genomics, Yale University | 0 | 0 | 0 | 3 | 0 | 3 |
| Centogene AG - the Rare Disease Company | 0 | 2 | 0 | 0 | 0 | 2 |
| GeneReviews | 0 | 0 | 0 | 0 | 2 | 2 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| Duke University Health System Sequencing Clinic, Duke University Health System | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute for Human Genetics, University Hospital Essen | 0 | 1 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 1 | 0 | 0 | 0 | 1 |