ClinGen FBN1 Variant Curation Expert Panel (ClinGen)
FDA Recognized Database
General information
ClinGen FBN1 Variant Curation Expert Panel
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50046/
Organization ID: 508638
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50046/
Organization ID: 508638
Personnel
- Linnea Baudhuin, Lab Director
Phone: +1 855-379-3115
Email: Baudhuin.Linnea@mayo.edu - Laura Muino Mosquera, Coordinator
Phone: +3293322441
Email: laura.muinomosquera@uzgent.be - Hanna Nadine, Staff
Phone: +33140258545
Email: nadine.hanna@aphp.fr
Assertion criteria
Level: Expert Panel
Summary of submissions to ClinVar
Total submissions: 120
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| FBN1 | 120 | Oct 31, 2024 |
| LOC113939944 | 4 | Oct 31, 2024 |
| LOC126862124 | 4 | Dec 29, 2023 |
| LOC130057019 | 2 | Sep 28, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Marfan syndrome | 120 | Oct 31, 2024 |