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 |
|---|---|---|---|---|---|
| 1 | 0 | 18 | 10 | 0 | 27 |
Condition and significance breakdown #
Total conditions: 9
| Condition | pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|
| Fanconi anemia | 1 | 12 | 8 | 21 |
| Spermatogenic failure 28; Premature ovarian failure 15 | 0 | 6 | 2 | 8 |
| not provided | 0 | 8 | 1 | 8 |
| Inborn genetic diseases | 0 | 1 | 5 | 6 |
| FANCM-related disorder | 0 | 1 | 0 | 1 |
| Fanconi anemia complementation group A | 0 | 0 | 1 | 1 |
| Hereditary cancer-predisposing syndrome | 0 | 1 | 0 | 1 |
| Premature ovarian failure 15 | 0 | 1 | 0 | 1 |
| not specified | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 1 | 12 | 8 | 21 |
| Fulgent Genetics, Fulgent Genetics | 0 | 6 | 2 | 8 |
| GeneDx | 0 | 7 | 0 | 7 |
| Ambry Genetics | 0 | 1 | 5 | 6 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 0 | 2 | 1 | 3 |
| Genetic Services Laboratory, University of Chicago | 0 | 1 | 0 | 1 |
| PreventionGenetics, part of Exact Sciences | 0 | 1 | 0 | 1 |
| Mendelics | 0 | 0 | 1 | 1 |
| Sema4, Sema4 | 0 | 1 | 0 | 1 |
| Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden | 0 | 1 | 0 | 1 |
| AiLife Diagnostics, AiLife Diagnostics | 0 | 1 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 0 | 1 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 1 | 0 | 1 |