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 |
|---|---|---|---|---|---|
| 11 | 1 | 62 | 16 | 24 | 114 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Inborn genetic diseases | 0 | 0 | 52 | 3 | 0 | 55 |
| not provided | 1 | 0 | 7 | 2 | 24 | 34 |
| AP1B1-related disorder | 1 | 0 | 1 | 12 | 0 | 14 |
| Autosomal recessive keratitis-ichthyosis-deafness syndrome | 10 | 1 | 1 | 0 | 2 | 14 |
| not specified | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 52 | 3 | 0 | 55 |
| GeneDx | 1 | 0 | 2 | 0 | 24 | 27 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 0 | 16 | 16 |
| PreventionGenetics, part of Exact Sciences | 1 | 0 | 1 | 12 | 0 | 14 |
| OMIM | 10 | 0 | 0 | 0 | 0 | 10 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 2 | 2 | 0 | 4 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 2 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 2 |
| ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories | 0 | 0 | 1 | 0 | 0 | 1 |
| Center for Personalized Medicine, Children's Hospital Los Angeles | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomics Facility, Ludwig-Maximilians-Universität München | 0 | 1 | 0 | 0 | 0 | 1 |
| Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences | 1 | 0 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |