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 | not provided | total |
|---|---|---|---|---|---|---|
| 6 | 2 | 47 | 6 | 0 | 1 | 61 |
Condition and significance breakdown #
Total conditions: 6
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| Inborn genetic diseases | 1 | 1 | 22 | 5 | 0 | 29 |
| not provided | 1 | 1 | 20 | 2 | 1 | 25 |
| Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | 4 | 0 | 2 | 0 | 0 | 6 |
| HNRNPR-related disorder | 0 | 0 | 2 | 0 | 0 | 2 |
| See cases | 0 | 0 | 1 | 0 | 0 | 1 |
| not specified | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 1 | 1 | 22 | 5 | 0 | 29 |
| GeneDx | 1 | 0 | 15 | 0 | 0 | 16 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 3 | 1 | 0 | 4 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 1 | 1 | 1 | 0 | 3 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 2 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 1 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 1 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 1 |