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 |
|---|---|---|---|---|---|
| 4 | 3 | 8 | 1 | 2 | 17 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| KIF2A | 4 | 3 | 7 | 1 | 2 | 16 |
| KIF2A, LOC129993961 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Revvity Omics, Revvity | 0 | 1 | 3 | 0 | 0 | 4 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 1 | 1 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 2 |
| Genetic Services Laboratory, University of Chicago | 0 | 1 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 1 | 0 | 1 |
| Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München | 1 | 0 | 0 | 0 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 0 | 0 | 1 |
| Daryl Scott Lab, Baylor College of Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Undiagnosed Diseases Network, NIH | 0 | 1 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 0 | 0 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 0 | 1 | 0 | 0 | 1 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 0 | 0 | 1 | 0 | 0 | 1 |