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 |
|---|---|---|---|---|---|---|
| 31 | 21 | 38 | 12 | 16 | 1 | 112 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| GLB1 | 29 | 21 | 35 | 11 | 13 | 1 | 103 |
| GLB1, LOC129936434, TMPPE | 2 | 0 | 3 | 1 | 3 | 0 | 9 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 33 | 9 | 8 | 0 | 50 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 18 | 10 | 0 | 0 | 0 | 0 | 28 |
| Pars Genome Lab | 0 | 0 | 0 | 3 | 12 | 0 | 15 |
| Counsyl | 4 | 6 | 0 | 0 | 0 | 0 | 10 |
| OMIM | 10 | 0 | 0 | 0 | 0 | 0 | 10 |
| Genome-Nilou Lab | 0 | 0 | 4 | 0 | 3 | 0 | 7 |
| MGZ Medical Genetics Center | 0 | 2 | 1 | 0 | 0 | 0 | 3 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
| Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Johns Hopkins Genomics, Johns Hopkins University | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |