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 |
|---|---|---|---|---|---|
| 9 | 7 | 22 | 2 | 30 | 69 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| CENPF | 8 | 7 | 21 | 2 | 30 | 67 |
| CENPF, LOC126806006 | 1 | 0 | 1 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 30 | 30 |
| Baylor Genetics | 3 | 2 | 10 | 0 | 0 | 15 |
| OMIM | 7 | 0 | 0 | 0 | 0 | 7 |
| Fulgent Genetics, Fulgent Genetics | 2 | 0 | 3 | 1 | 0 | 6 |
| Revvity Omics, Revvity | 0 | 0 | 4 | 0 | 0 | 4 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 0 | 2 | 1 | 0 | 0 | 3 |
| MGZ Medical Genetics Center | 0 | 1 | 1 | 0 | 0 | 2 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 1 | 0 | 2 |
| Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota | 0 | 2 | 0 | 0 | 0 | 2 |
| Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| College of Medicine Research Centre, King Saud Univeristy | 0 | 1 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 0 | 1 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 0 | 0 | 0 | 1 |