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 | 0 | 59 | 12 | 7 | 75 |
Condition and significance breakdown #
Total conditions: 4
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not specified | 0 | 45 | 3 | 0 | 48 |
| not provided | 0 | 6 | 6 | 3 | 15 |
| Paganini-Miozzo syndrome | 1 | 8 | 2 | 1 | 12 |
| HS6ST2-related disorder | 0 | 3 | 1 | 4 | 8 |
Submitter and significance breakdown #
Total submitters: 17
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Ambry Genetics | 0 | 41 | 3 | 0 | 44 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 5 | 6 | 0 | 11 |
| PreventionGenetics, part of Exact Sciences | 0 | 3 | 1 | 4 | 8 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 4 | 0 | 0 | 4 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 0 | 3 | 3 |
| New York Genome Center | 0 | 3 | 0 | 0 | 3 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 3 | 3 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 1 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 1 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 1 |
| Centogene AG - the Rare Disease Company | 0 | 1 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 0 | 1 | 1 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 1 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 0 | 0 | 1 |