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 |
|---|---|---|---|---|---|
| 37 | 8 | 201 | 196 | 24 | 461 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| DYNC2I2 | 26 | 7 | 126 | 142 | 17 | 315 |
| DYNC2I2, LOC126860772 | 9 | 1 | 73 | 54 | 7 | 142 |
| DYNC2I2, LOC126860772, SPTAN1 | 1 | 0 | 1 | 0 | 0 | 2 |
| DYNC2I2, SPTAN1 | 1 | 0 | 1 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 32 | 3 | 198 | 195 | 24 | 452 |
| OMIM | 9 | 0 | 0 | 0 | 0 | 9 |
| Revvity Omics, Revvity | 1 | 2 | 2 | 0 | 0 | 5 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 4 | 4 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 2 | 0 | 0 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 1 | 1 | 0 | 3 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 1 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 0 | 0 | 1 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 1 | 0 | 0 | 0 | 1 |
| Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| 3billion, Medical Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn | 0 | 0 | 1 | 0 | 0 | 1 |