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 |
|---|---|---|---|---|---|---|
| 4 | 0 | 47 | 3 | 77 | 3 | 131 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| SEPTIN9 | 3 | 47 | 3 | 77 | 3 | 130 |
| LOC130061758, LOC130061759, LOC130061760, LOC130061761, MIR4316, SEPTIN9 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 42 | 3 | 71 | 0 | 116 |
| Genome-Nilou Lab | 0 | 0 | 0 | 37 | 0 | 37 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Revvity Omics, Revvity | 0 | 3 | 0 | 0 | 0 | 3 |
| GeneReviews | 0 | 0 | 0 | 0 | 3 | 3 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 0 | 3 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 1 | 1 | 0 | 0 | 0 | 2 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 1 | 1 |
| New York Genome Center | 0 | 1 | 0 | 0 | 0 | 1 |