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 | total |
|---|---|---|---|---|---|
| 75 | 43 | 393 | 135 | 59 | 689 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| NF1 | 73 | 41 | 373 | 133 | 59 | 663 |
| LOC111811965, MIR4733HG, NF1 | 1 | 2 | 20 | 2 | 0 | 25 |
| ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LRRC37B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 41 | 29 | 284 | 93 | 0 | 447 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 107 | 24 | 29 | 160 |
| KCCC/NGS Laboratory, Kuwait Cancer Control Center | 0 | 0 | 0 | 23 | 39 | 62 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 26 | 13 | 7 | 0 | 0 | 46 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 6 | 0 | 4 | 0 | 1 | 11 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 1 | 1 | 0 | 0 | 0 | 2 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 1 | 0 | 0 | 0 | 0 | 1 |
| Molecular Genetics Lab, CHRU Brest | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn | 1 | 0 | 0 | 0 | 0 | 1 |
| Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital | 1 | 0 | 0 | 0 | 0 | 1 |