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 | association | total |
|---|---|---|---|---|---|---|
| 1 | 0 | 3 | 5 | 7 | 1 | 8 |
Condition and significance breakdown #
Total conditions: 15
| Condition | pathogenic | uncertain significance | likely benign | benign | association | total |
|---|---|---|---|---|---|---|
| Autosomal recessive DOPA responsive dystonia | 1 | 0 | 2 | 5 | 0 | 8 |
| Maturity onset diabetes mellitus in young | 0 | 0 | 4 | 3 | 0 | 7 |
| Maturity-onset diabetes of the young type 10 | 0 | 1 | 1 | 5 | 0 | 7 |
| Transient Neonatal Diabetes, Dominant/Recessive | 0 | 0 | 4 | 3 | 0 | 7 |
| not provided | 0 | 0 | 1 | 7 | 0 | 7 |
| not specified | 0 | 0 | 0 | 3 | 0 | 3 |
| Diabetes mellitus, permanent neonatal 4 | 0 | 0 | 1 | 1 | 0 | 2 |
| Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4 | 0 | 0 | 1 | 1 | 0 | 2 |
| Diabetes mellitus type 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Hyperproinsulinemia | 0 | 0 | 0 | 1 | 0 | 1 |
| Hypoinsulinemia | 0 | 0 | 0 | 0 | 1 | 1 |
| Neonatal diabetes mellitus | 0 | 0 | 0 | 1 | 0 | 1 |
| Neonatal insulin-dependent diabetes mellitus | 0 | 1 | 0 | 0 | 0 | 1 |
| Type 1 diabetes mellitus 2 | 0 | 0 | 0 | 1 | 0 | 1 |
| Type 2 diabetes mellitus | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | uncertain significance | likely benign | benign | association | total |
|---|---|---|---|---|---|---|
| GeneDx | 0 | 0 | 1 | 6 | 0 | 7 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 4 | 7 | 0 | 7 |
| Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic | 0 | 3 | 1 | 1 | 1 | 6 |
| Athena Diagnostics Inc | 0 | 0 | 0 | 3 | 0 | 3 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 0 | 3 | 0 | 3 |
| Invitae | 1 | 0 | 0 | 2 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 1 | 0 | 2 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 0 | 1 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 0 | 0 | 1 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 1 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 0 | 1 |