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 |
|---|---|---|---|---|---|
| 9 | 7 | 20 | 61 | 12 | 95 |
Condition and significance breakdown #
Total conditions: 14
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 7 | 4 | 5 | 55 | 12 | 82 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 2 | 1 | 3 | 4 | 1 | 11 |
| Maturity onset diabetes mellitus in young | 0 | 0 | 8 | 0 | 3 | 11 |
| Transitory neonatal diabetes mellitus | 0 | 0 | 11 | 0 | 0 | 11 |
| not specified | 0 | 0 | 4 | 2 | 0 | 6 |
| Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 | 0 | 0 | 0 | 4 | 1 | 5 |
| Diabetes mellitus, transient neonatal, 2 | 0 | 0 | 0 | 3 | 1 | 4 |
| Diabetes mellitus, permanent neonatal 3 | 0 | 0 | 0 | 2 | 1 | 3 |
| Leucine-induced hypoglycemia | 0 | 0 | 0 | 2 | 1 | 3 |
| Hereditary hyperinsulinism | 0 | 0 | 2 | 0 | 0 | 2 |
| Type 2 diabetes mellitus | 0 | 2 | 0 | 0 | 0 | 2 |
| ABCC8-related condition | 0 | 0 | 1 | 0 | 0 | 1 |
| Familial hyperinsulinism | 1 | 0 | 0 | 0 | 0 | 1 |
| Permanent neonatal diabetes mellitus | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 16
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 6 | 4 | 3 | 48 | 3 | 64 |
| GeneDx | 1 | 0 | 3 | 7 | 10 | 21 |
| Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic | 0 | 0 | 11 | 0 | 3 | 11 |
| Genetic Services Laboratory, University of Chicago | 2 | 0 | 2 | 1 | 0 | 5 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 4 | 1 | 5 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 3 | 0 | 0 | 4 |
| Pars Genome Lab | 0 | 0 | 0 | 2 | 1 | 3 |
| Baylor Genetics | 0 | 2 | 0 | 0 | 0 | 2 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 1 | 1 | 0 | 2 |
| Counsyl | 0 | 0 | 1 | 1 | 0 | 2 |
| Natera, Inc. | 0 | 0 | 2 | 0 | 0 | 2 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 2 | 0 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 0 | 1 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 1 | 0 | 0 | 0 | 0 | 1 |
| Myriad Genetics, Inc. | 0 | 1 | 0 | 0 | 0 | 1 |