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 | not provided | total |
|---|---|---|---|---|---|---|
| 5 | 6 | 12 | 3 | 7 | 1 | 33 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| ACO2 | 2 | 2 | 8 | 3 | 7 | 1 | 22 |
| ACO2, POLR3H | 3 | 3 | 4 | 0 | 0 | 0 | 10 |
| ACO2, LOC130067544 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 4 | 3 | 0 | 0 | 7 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 7 | 0 | 7 |
| Institute of Human Genetics, University of Goettingen | 0 | 2 | 2 | 0 | 0 | 0 | 4 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 3 | 0 | 0 | 0 | 4 |
| MGZ Medical Genetics Center | 0 | 1 | 2 | 0 | 0 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| Department of Medical Genetics, College of Basic Medicine, Army Medical University | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
| DBGen Ocular Genomics | 1 | 0 | 1 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Daryl Scott Lab, Baylor College of Medicine | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn | 0 | 0 | 1 | 0 | 0 | 0 | 1 |