Clingen PTEN Variant Curation Expert Panel (ClinGen), CG_PTEN_EP
FDA Recognized Database
General information
Clingen PTEN Variant Curation Expert Panel, CG_PTEN_EP
ClinGen
Lakewood
Ohio
United States
https://www.clinicalgenome.org/working-groups/clinical-domain/hereditary-cancer-clinical-domain-working-group/pten-variant-curation-expert-panel/
Organization ID: 506694
ClinGen
Lakewood
Ohio
United States
https://www.clinicalgenome.org/working-groups/clinical-domain/hereditary-cancer-clinical-domain-working-group/pten-variant-curation-expert-panel/
Organization ID: 506694
Personnel
- Jessica Mester, Variant scientist/curator
Phone: N/A
Email: jmester@genedx.com - Sheng-An Yang, Coordinator
Phone: N/A
Email: Sheng-An.Yang@bcm.edu
Assertion criteria
Level: Expert Panel
Summary of submissions to ClinVar
Total submissions: 192
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| KLLN | 13 | Sep 30, 2022 |
| LOC130004273 | 14 | Dec 18, 2023 |
| PTEN | 192 | Dec 18, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| PTEN hamartoma tumor syndrome | 192 | Dec 18, 2023 |