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 | not provided | total |
|---|---|---|---|---|---|---|
| 2 | 2 | 7 | 4 | 3 | 3 | 12 |
Condition and significance breakdown #
Total conditions: 9
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| not provided | 2 | 1 | 3 | 1 | 2 | 0 | 7 |
| not specified | 1 | 0 | 4 | 2 | 1 | 0 | 7 |
| Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4 | 2 | 0 | 2 | 0 | 0 | 0 | 4 |
| INS-related disorder | 1 | 0 | 2 | 0 | 0 | 0 | 3 |
| Permanent neonatal diabetes mellitus | 1 | 0 | 0 | 0 | 0 | 3 | 3 |
| Diabetes mellitus, permanent neonatal 4 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| Diabetes mellitus | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Maturity-onset diabetes of the young type 10 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Type 2 diabetes mellitus | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Genetic Services Laboratory, University of Chicago | 1 | 1 | 4 | 1 | 1 | 0 | 8 |
| GeneDx | 2 | 0 | 3 | 0 | 1 | 0 | 6 |
| Fulgent Genetics, Fulgent Genetics | 2 | 0 | 2 | 0 | 0 | 0 | 4 |
| PreventionGenetics, part of Exact Sciences | 1 | 0 | 2 | 0 | 0 | 0 | 3 |
| Labcorp Genetics (formerly Invitae), Labcorp | 1 | 0 | 0 | 1 | 1 | 0 | 3 |
| GeneReviews | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic | 0 | 0 | 1 | 2 | 0 | 0 | 3 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 1 | 0 | 0 | 2 |
| MGZ Medical Genetics Center | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 0 | 1 | 0 | 1 |