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 |
|---|---|---|---|---|---|
| 2 | 0 | 151 | 124 | 8 | 277 |
Condition and significance breakdown #
Total conditions: 4
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not provided | 0 | 125 | 121 | 8 | 251 |
| Inborn genetic diseases | 0 | 38 | 3 | 0 | 41 |
| Cerebroretinal microangiopathy with calcifications and cysts 2 | 2 | 6 | 1 | 3 | 12 |
| STN1-related disorder | 0 | 3 | 4 | 1 | 8 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 121 | 118 | 8 | 247 |
| Ambry Genetics | 0 | 38 | 3 | 0 | 41 |
| PreventionGenetics, part of Exact Sciences | 0 | 3 | 4 | 1 | 8 |
| GeneDx | 0 | 5 | 0 | 1 | 6 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 1 | 5 | 6 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 1 | 4 | 0 | 5 |
| Fulgent Genetics, Fulgent Genetics | 0 | 3 | 1 | 0 | 4 |
| Genome-Nilou Lab | 0 | 0 | 0 | 3 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 1 |
| Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 0 | 1 | 0 | 1 |
| Bionano Laboratories | 0 | 1 | 0 | 0 | 1 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 1 | 0 | 1 |
| St. Jude Molecular Pathology, St. Jude Children's Research Hospital | 0 | 1 | 0 | 0 | 1 |