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 |
|---|---|---|---|---|---|
| 0 | 0 | 106 | 12 | 6 | 123 |
Condition and significance breakdown #
Total conditions: 6
| Condition | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| not specified | 91 | 4 | 0 | 95 |
| not provided | 10 | 6 | 6 | 22 |
| KDM4C-related disorder | 2 | 1 | 0 | 3 |
| Enchondromatosis | 2 | 0 | 0 | 2 |
| Maffucci syndrome | 1 | 0 | 0 | 1 |
| See cases | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Ambry Genetics | 91 | 4 | 0 | 95 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 5 | 3 | 0 | 8 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 6 | 6 |
| Bionano Laboratories | 5 | 0 | 0 | 5 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 5 | 5 |
| PreventionGenetics, part of Exact Sciences | 2 | 1 | 0 | 3 |
| Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine | 3 | 0 | 0 | 3 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 3 | 0 | 3 |
| ISCA Site 6 | 0 | 1 | 0 | 1 |