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 |
|---|---|---|---|---|---|---|
| 7 | 2 | 73 | 12 | 19 | 1 | 107 |
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 |
|---|---|---|---|---|---|---|---|
| PCK1 | 6 | 2 | 65 | 11 | 18 | 0 | 96 |
| NRL, PCK2 | 1 | 0 | 8 | 1 | 1 | 1 | 11 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 63 | 9 | 17 | 0 | 89 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 7 | 0 | 7 |
| Baylor Genetics | 0 | 0 | 6 | 0 | 0 | 0 | 6 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 2 | 1 | 0 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
| Mendelics | 1 | 0 | 1 | 0 | 1 | 0 | 3 |
| Fatma Al Jasmi Lab, United Arab Emirates University | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 1 | 0 | 0 | 2 |
| Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| 3billion | 0 | 0 | 1 | 0 | 0 | 0 | 1 |