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 | 30 | 36 | 33 | 88 |
Condition and significance breakdown #
Total conditions: 7
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not provided | 1 | 16 | 29 | 24 | 70 |
| Renal hypomagnesemia 2 | 1 | 15 | 7 | 15 | 35 |
| FXYD2-related disorder | 0 | 1 | 5 | 0 | 6 |
| not specified | 0 | 1 | 2 | 1 | 4 |
| Inborn genetic diseases | 0 | 2 | 1 | 0 | 3 |
| Renal Hypomagnesemia, Dominant | 0 | 1 | 0 | 1 | 2 |
| FXYD6-FXYD2-related disorder | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 1 | 14 | 23 | 9 | 47 |
| GeneDx | 0 | 0 | 7 | 15 | 22 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 6 | 16 | 22 |
| Illumina Laboratory Services, Illumina | 0 | 4 | 1 | 16 | 21 |
| Fulgent Genetics, Fulgent Genetics | 0 | 10 | 7 | 2 | 19 |
| PreventionGenetics, part of Exact Sciences | 0 | 1 | 6 | 0 | 7 |
| Ambry Genetics | 0 | 2 | 1 | 0 | 3 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 2 | 1 | 0 | 3 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 1 | 1 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Genetic Services Laboratory, University of Chicago | 0 | 0 | 1 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 1 |
| Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 0 | 0 | 1 | 1 |
| Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) | 0 | 0 | 1 | 0 | 1 |
| New York Genome Center | 0 | 1 | 0 | 0 | 1 |