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 |
|---|---|---|---|---|---|
| 1 | 2 | 103 | 15 | 11 | 128 |
Condition and significance breakdown #
Total conditions: 6
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not specified | 0 | 0 | 68 | 4 | 3 | 75 |
| not provided | 1 | 1 | 33 | 6 | 6 | 45 |
| AGMO-related disorder | 0 | 0 | 5 | 5 | 5 | 15 |
| See cases | 0 | 1 | 1 | 1 | 0 | 3 |
| AGMO-related Neurodevelopmental disorder | 0 | 0 | 2 | 0 | 0 | 2 |
| VATER association | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 17
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 62 | 3 | 0 | 65 |
| GeneDx | 1 | 1 | 16 | 0 | 1 | 19 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 5 | 5 | 5 | 15 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 1 | 3 | 5 | 9 |
| Bionano Laboratories | 0 | 0 | 9 | 0 | 0 | 9 |
| Genetic Services Laboratory, University of Chicago | 0 | 0 | 4 | 1 | 3 | 8 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 3 | 3 | 0 | 6 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 0 | 0 | 4 | 1 | 0 | 5 |
| New York Genome Center | 0 | 1 | 4 | 0 | 0 | 5 |
| Eurofins Ntd Llc (ga) | 0 | 0 | 2 | 0 | 0 | 2 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 2 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 1 |
| ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories | 0 | 0 | 1 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 0 | 1 | 0 | 0 | 1 |
| ISCA site 1 | 0 | 0 | 0 | 1 | 0 | 1 |
| Reutter Lab, Institute of Human Genetics, University Hospital Bonn | 0 | 0 | 0 | 1 | 0 | 1 |
| Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | 0 | 0 | 1 | 0 | 0 | 1 |