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 |
|---|---|---|---|---|---|
| 10 | 9 | 13 | 4 | 3 | 34 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| CARMIL2 | 10 | 9 | 13 | 4 | 2 | 33 |
| ACD, CARMIL2 | 0 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| OMIM | 8 | 0 | 0 | 0 | 0 | 8 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 4 | 0 | 5 |
| Baylor Genetics | 0 | 0 | 4 | 0 | 0 | 4 |
| Revvity Omics, Revvity | 0 | 1 | 3 | 0 | 0 | 4 |
| SIB Swiss Institute of Bioinformatics | 1 | 3 | 0 | 0 | 0 | 4 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 3 | 0 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 3 | 3 |
| 3billion | 0 | 1 | 1 | 0 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 1 | 0 | 0 | 2 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 1 | 1 | 0 | 0 | 2 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 1 | 0 | 0 | 0 | 0 | 1 |
| Undiagnosed Diseases Network, NIH | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomics Facility, Ludwig-Maximilians-Universität München | 0 | 1 | 0 | 0 | 0 | 1 |