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 |
|---|---|---|---|---|---|
| 5 | 0 | 3 | 4 | 4 | 11 |
Condition and significance breakdown #
Total conditions: 7
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Ellis-van Creveld syndrome; Curry-Hall syndrome | 5 | 0 | 1 | 2 | 8 |
| Curry-Hall syndrome | 0 | 0 | 3 | 2 | 5 |
| Ellis-van Creveld syndrome | 0 | 1 | 4 | 2 | 5 |
| not provided | 0 | 2 | 1 | 1 | 4 |
| not specified | 0 | 0 | 1 | 3 | 4 |
| EVC2-related condition | 0 | 0 | 1 | 0 | 1 |
| Inborn genetic diseases | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Invitae | 5 | 0 | 1 | 2 | 8 |
| Eurofins Ntd Llc (ga) | 0 | 1 | 1 | 3 | 5 |
| Illumina Laboratory Services, Illumina | 0 | 1 | 4 | 2 | 5 |
| GeneDx | 0 | 0 | 1 | 3 | 4 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 2 | 2 | 4 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 1 | 1 | 1 | 3 |
| Ambry Genetics | 0 | 1 | 0 | 0 | 1 |
| Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 0 | 1 | 0 | 1 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 0 | 1 | 0 | 0 | 1 |
| Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) | 0 | 0 | 1 | 0 | 1 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 1 | 0 | 1 |