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 | 3 | 40 | 6 | 16 | 1 | 68 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| NAGA | 3 | 3 | 27 | 2 | 14 | 0 | 47 |
| LOC126863160, NAGA | 1 | 0 | 10 | 2 | 1 | 1 | 15 |
| LOC130067582, NAGA | 0 | 0 | 3 | 1 | 0 | 0 | 4 |
| NAGA, WBP2NL | 0 | 0 | 0 | 1 | 1 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 40 | 6 | 16 | 0 | 62 |
| Fulgent Genetics, Fulgent Genetics | 0 | 3 | 1 | 0 | 0 | 0 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 1 | 0 | 0 | 0 | 0 | 1 |