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 | 4 | 5 | 1 | 0 | 12 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| CDK19 | 1 | 2 | 4 | 1 | 7 |
| AMD1, CDK19 | 4 | 2 | 1 | 0 | 5 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Zarate Arkansas Children's Genetics Clinic, Arkansas Children's Hospital | 3 | 3 | 0 | 0 | 6 |
| OMIM | 5 | 0 | 0 | 0 | 5 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 2 | 0 | 2 |
| Institute of Human Genetics, Cologne University | 0 | 0 | 1 | 0 | 1 |
| Mendelics | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 0 | 1 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 1 |
| Cipher Gene Genetics Laboratory, Cipher Gene, Inc | 0 | 1 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 1 | 0 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, Skane University Hospital Lund | 0 | 1 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 1 |