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 |
|---|---|---|---|---|---|
| 5 | 0 | 55 | 28 | 38 | 120 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| BLK | 4 | 48 | 25 | 30 | 102 |
| BLK, LOC126860303 | 0 | 2 | 3 | 5 | 9 |
| BLK, LOC126860302 | 0 | 5 | 0 | 3 | 8 |
| BLK, FAM167A | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 40 | 15 | 30 | 85 |
| Fulgent Genetics, Fulgent Genetics | 0 | 9 | 14 | 2 | 25 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 1 | 2 | 9 | 12 |
| Genome-Nilou Lab | 0 | 0 | 0 | 8 | 8 |
| OMIM | 5 | 0 | 0 | 0 | 5 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 3 | 0 | 0 | 3 |
| Baylor Genetics | 0 | 2 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 1 |
| Centogene AG - the Rare Disease Company | 0 | 1 | 0 | 0 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 1 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 1 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 1 | 0 | 0 | 1 |
| Reproductive Health Research and Development, BGI Genomics | 0 | 0 | 0 | 1 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 0 | 0 | 1 | 1 |
| Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences | 0 | 1 | 0 | 0 | 1 |