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 | 137 | 86 | 59 | 263 |
Condition and significance breakdown #
Total conditions: 7
| Condition | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| not provided | 80 | 70 | 59 | 203 |
| not specified | 61 | 7 | 0 | 68 |
| ARHGAP24-related disorder | 8 | 17 | 0 | 25 |
| Focal segmental glomerulosclerosis | 1 | 0 | 0 | 1 |
| Focal segmental glomerulosclerosis 1 | 1 | 0 | 0 | 1 |
| Nephrotic syndrome | 1 | 0 | 0 | 1 |
| See cases | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 16
| Submitter | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 57 | 46 | 23 | 126 |
| GeneDx | 18 | 19 | 42 | 79 |
| Ambry Genetics | 60 | 7 | 0 | 67 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 7 | 24 | 31 |
| PreventionGenetics, part of Exact Sciences | 8 | 17 | 0 | 25 |
| CeGaT Center for Human Genetics Tuebingen | 1 | 6 | 0 | 7 |
| Revvity Omics, Revvity | 2 | 0 | 0 | 2 |
| Mayo Clinic Laboratories, Mayo Clinic | 2 | 0 | 0 | 2 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 2 | 0 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 1 |
| Mendelics | 1 | 0 | 0 | 1 |
| Bionano Laboratories | 1 | 0 | 0 | 1 |
| ISCA site 1 | 1 | 0 | 0 | 1 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare | 1 | 0 | 0 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 1 | 0 | 0 | 1 |
| Sydney Genome Diagnostics, Children's Hospital Westmead | 1 | 0 | 0 | 1 |