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 | 10 | 7 | 2 | 0 | 23 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| KATNIP | 5 | 9 | 7 | 2 | 22 |
| KATNIP, LOC126862323 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 2 | 1 | 0 | 0 | 3 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 1 | 1 | 0 | 3 |
| New York Genome Center | 0 | 0 | 3 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 2 | 0 | 2 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 2 | 2 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 2 | 0 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 2 | 0 | 0 | 2 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 1 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 1 |
| Human Genetics Laboratory, Faculty of Medicine of Tunis | 0 | 1 | 0 | 0 | 1 |
| Clinical Genomics Laboratory, Stanford Medicine | 0 | 0 | 1 | 0 | 1 |
| Pediatrics Genetics, Post Graduate Institute of Medical Education and Research | 0 | 1 | 0 | 0 | 1 |
| DASA | 1 | 0 | 0 | 0 | 1 |