ClinGen Monogenic Diabetes Variant Curation Expert Panel (ClinGen), Diabetes VCEP
FDA Recognized Database
General information
ClinGen Monogenic Diabetes Variant Curation Expert Panel, Diabetes VCEP
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50016/
Organization ID: 508240
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50016/
Organization ID: 508240
Personnel
- Kristin Maloney, Contact
Phone: 410-706-6071
Email: kmaloney@som.umaryland.edu - Toni Pollin, Contact
Phone: 410-706-1630
Email: tpollin@som.umaryland.edu - Stephanie Riley, Contact
Phone: 410-328-3335
Email: sriley@som.umaryland.edu
Assertion criteria
Level: Expert panel
- ClinGen Diabetes ACMG Specifications GCK V1.1.0
- ClinGen Diabetes ACMG Specifications GCK V1.2.0
- ClinGen Diabetes ACMG Specifications HNF1A V2.0.0
- ClinGen Diabetes ACMG Specifications HNF1A V2.1.0
- ClinGen Diabetes ACMG Specifications HNF4A V2.0.0
- ClinGen Diabetes ACMG Specifications v1 1
- ClinGen Monogenic Diabetes ACMG Specifications GCK V1.3.0
- ClinGen Monogenic Diabetes ACMG Specifications HNF4A V1.1.0
- Clingen Diabetes Acmg Specifications V1 2
- MDEP HNF4A Specificiations 1.0.0
Summary of submissions to ClinVar
Total submissions: 677
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| C12orf43 | 22 | Mar 5, 2024 |
| GCK | 251 | Apr 5, 2024 |
| HNF1A | 325 | Mar 5, 2024 |
| HNF4A | 63 | Mar 1, 2024 |
| R3HDML-AS1 | 1 | Jun 6, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Maturity-onset diabetes of the young type 2 | 12 | Dec 5, 2023 |
| Monogenic diabetes | 665 | Apr 5, 2024 |